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4. Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients

Author

Hübschmann OK, Mohr A, Friedman J, Manti F, Horvath G, Cortés-Saladelafont E, Mercimek-Andrews S, Yildiz Y, Pons R, Kulhánek J, Oppebøen M, Koht JA, Podzamczer-Valls I, Domingo-Jimenez R, Ibáñez S, Alcoverro-Fortuny O, Gómez-Alemany T, de Castro P, Alfonsi C, Zafeiriou DI, López-Laso E, Guder P, Santer R, Honzík T, Hoffmann GF, Garbade SF, Sivri HS, Leuzzi V, Jeltsch K, Garcia-Cazorla A, Opladen T, Harting I, International Working Group on Neurotransmitter Related Disorders, [Kuseyri Hübschmann O] Department of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany. [Mohr A] Department of Neuroradiology, University Hospital Heidelberg, Heidelberg, Germany. [Friedman J] UCSD Departments of Neuroscience and Pediatrics, Rady Children's Hospital Division of Neurology, Rady Children's Institute for Genomic Medicine, San Diego, California. [Manti F] Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza, University of Rome, Rome, Italy. [Horvath G] University of British Columbia, Department of Pediatrics, Division of Biochemical Genetics, BC Children's Hospital, Vancouver, British Columbia, Canada. [Cortès-Saladelafont E] Inborn Errors of Metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain. Unit of Pediatric Neurology and Metabolic Disorders, Department of Pediatrics, Hospital Germans Trias i Pujol and Faculty of Medicine,Universitat Autònoma de Barcelona, Barcelona, Spain. [Alcoverro-Fortuny O, Gómez-Alemany T] Hospital General de Granollers, Granollers, Spain, and Hospital General de Granollers

Subjects
Male, Pathology, Movement disorders, Neurotransmissors, diagnóstico::técnicas y procedimientos diagnósticos::diagnóstico::técnicas y procedimientos diagnósticos::técnicas diagnósticas neurológicas::neuroimágenes [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], monoamines, Child, Genetics (clinical), 0303 health sciences, Brain Mapping, 030305 genetics & heredity, Inherited neurotransmitter disorders, monoamines, MRI, tetrahydrobiopterin deficiency, inherited neurotransmitter disorders, Brain, watershed injury, Middle Aged, Magnetic Resonance Imaging, medicine.anatomical_structure, Child, Preschool, Female, medicine.symptom, Adult, medicine.medical_specialty, Adolescent, Encephalopathy, Diagnosis::Diagnostic Techniques and Procedures::Diagnosis::Diagnostic Techniques and Procedures::Diagnostic Techniques, Neurological::Neuroimaging [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Grey matter, 03 medical and health sciences, Young Adult, Atrophy, enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::alteraciones congénitas del metabolismo::alteraciones congénitas del metabolismo de los aminoácidos::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::alteraciones congénitas del metabolismo::fenilcetonurias [ENFERMEDADES], Neuroimaging, Genetics, medicine, Humans, Tetrahydrobiopterin deficiency, Amino Acid Metabolism, Inborn Errors, Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Brain Diseases, Metabolic [DISEASES], 030304 developmental biology, Retrospective Studies, enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades cerebrales metabólicas [ENFERMEDADES], Inherited neurotransmitter disorders, Sistema nerviós - Malalties, Tyrosine hydroxylase, business.industry, Ressonància magnètica, Infant, medicine.disease, Monoamine neurotransmitter, Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Amino Acid Metabolism, Inborn Errors::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Phenylketonurias [DISEASES], business
Abstract

RM; Trastornos hereditarios de neurotransmisores; Monoaminas; Deficiencia de tetrahidrobiopterina RM; Trastorns dels neurotransmissors heretats; Monoamines; Deficiència de tetrahidrobiopterina MRI; Inherited neurotransmitter disorders; Monoamines; Tetrahydrobiopterin deficiency; Inherited monoamine neurotransmitter disorders (iMNDs) are rare disorders with clinical manifestations ranging from mild infantile hypotonia, movement disorders to early infantile severe encephalopathy. Neuroimaging has been reported as non-specific. We systematically analyzed brain MRIs in order to characterize and better understand neuroimaging changes and to re-evaluate the diagnostic role of brain MRI in iMNDs. 81 MRIs of 70 patients (0.1-52.9 years, 39 patients with tetrahydrobiopterin deficiencies, 31 with primary disorders of monoamine metabolism) were retrospectively analyzed and clinical records reviewed. 33/70 patients had MRI changes, most commonly atrophy (n = 24). Eight patients, six with dihydropteridine reductase deficiency (DHPR), had a common pattern of bilateral parieto-occipital and to a lesser extent frontal and/or cerebellar changes in arterial watershed zones. Two patients imaged after acute severe encephalopathy had signs of profound hypoxic-ischemic injury and a combination of deep gray matter and watershed injury (aromatic l-amino acid decarboxylase (AADCD), tyrosine hydroxylase deficiency (THD)). Four patients had myelination delay (AADCD; THD); two had changes characteristic of post-infantile onset neuronal disease (AADCD, monoamine oxidase A deficiency), and nine T2-hyperintensity of central tegmental tracts. iMNDs are associated with MRI patterns consistent with chronic effects of a neuronal disorder and signs of repetitive injury to cerebral and cerebellar watershed areas, in particular in DHPRD. These will be helpful in the (neuroradiological) differential diagnosis of children with unknown disorders and monitoring of iMNDs. We hypothesize that deficiency of catecholamines and/or tetrahydrobiopterin increase the incidence of and the CNS susceptibility to vascular dysfunction.

Published
2021

5. Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients

Author

Kuseyri Hübschmann, O. Mohr, A. Friedman, J. Manti, F. Horvath, G. Cortès-Saladelafont, E. Mercimek-Andrews, S. Yildiz, Y. Pons, R. Kulhánek, J. Oppebøen, M. Koht, J.A. Podzamczer-Valls, I. Domingo-Jimenez, R. Ibáñez, S. Alcoverro-Fortuny, O. Gómez-Alemany, T. de Castro, P. Alfonsi, C. Zafeiriou, D.I. López-Laso, E. Guder, P. Santer, R. Honzík, T. Hoffmann, G.F. Garbade, S.F. Sivri, H.S. Leuzzi, V. Jeltsch, K. García-Cazorla, A. Opladen, T. Harting, I. International Working Group on Neurotransmitter Related Disorders (iNTD)

Abstract

Inherited monoamine neurotransmitter disorders (iMNDs) are rare disorders with clinical manifestations ranging from mild infantile hypotonia, movement disorders to early infantile severe encephalopathy. Neuroimaging has been reported as non-specific. We systematically analyzed brain MRIs in order to characterize and better understand neuroimaging changes and to re-evaluate the diagnostic role of brain MRI in iMNDs. 81 MRIs of 70 patients (0.1-52.9 years, 39 patients with tetrahydrobiopterin deficiencies, 31 with primary disorders of monoamine metabolism) were retrospectively analyzed and clinical records reviewed. 33/70 patients had MRI changes, most commonly atrophy (n = 24). Eight patients, six with dihydropteridine reductase deficiency (DHPR), had a common pattern of bilateral parieto-occipital and to a lesser extent frontal and/or cerebellar changes in arterial watershed zones. Two patients imaged after acute severe encephalopathy had signs of profound hypoxic-ischemic injury and a combination of deep gray matter and watershed injury (aromatic l-amino acid decarboxylase (AADCD), tyrosine hydroxylase deficiency (THD)). Four patients had myelination delay (AADCD; THD); two had changes characteristic of post-infantile onset neuronal disease (AADCD, monoamine oxidase A deficiency), and nine T2-hyperintensity of central tegmental tracts. iMNDs are associated with MRI patterns consistent with chronic effects of a neuronal disorder and signs of repetitive injury to cerebral and cerebellar watershed areas, in particular in DHPRD. These will be helpful in the (neuroradiological) differential diagnosis of children with unknown disorders and monitoring of iMNDs. We hypothesize that deficiency of catecholamines and/or tetrahydrobiopterin increase the incidence of and the CNS susceptibility to vascular dysfunction. © 2021 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.

Published
2021

6. Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

Author

Kuseyri Hübschmann, O. Horvath, G. Cortès-Saladelafont, E. Yıldız, Y. Mastrangelo, M. Pons, R. Friedman, J. Mercimek-Andrews, S. Wong, S.-N. Pearson, T.S. Zafeiriou, D.I. Kulhánek, J. Kurian, M.A. López-Laso, E. Oppebøen, M. Kılavuz, S. Wassenberg, T. Goez, H. Scholl-Bürgi, S. Porta, F. Honzík, T. Santer, R. Burlina, A. Sivri, H.S. Leuzzi, V. Hoffmann, G.F. Jeltsch, K. Hübschmann, D. Garbade, S.F. Assmann, B. Fung, C.-W. Guder, P. Hong, S.T.K. Karall, D. Kato, M. Kavecan, I. Koht, J.A. Kuster, A. Lücke, T. Manti, F. Mir, P. Mühlhausen, C. Önenli Mungan, H.N. Palacios, N.A.J. Ramos, J.A.F. Steel, D. Stevanović, G. Sykut-Cegielska, J. Verbeek, M.M. García-Cazorla, A. Opladen, T. iNTD Registry Study Group

Abstract

Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardized deep phenotyping approach and describes the clinical and biochemical presentation at disease onset as well as diagnostic approaches of 275 patients from the registry of the International Working Group on Neurotransmitter related Disorders. The results reveal an increased rate of prematurity, a high risk for being small for gestational age and for congenital microcephaly in some disorders. Age at diagnosis and the diagnostic delay are influenced by the diagnostic methods applied and by disease-specific symptoms. The timepoint of investigation was also a significant factor: delay to diagnosis has decreased in recent years, possibly due to novel diagnostic approaches or raised awareness. Although each disorder has a specific biochemical pattern, we observed confounding exceptions to the rule. The data provide comprehensive insights into the phenotypic spectrum of neurotransmitter disorders. © 2021, The Author(s).

Published
2021

7. Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

Author

Hübschmann, O. Kuseyri, Horvath, G., Cortès-Saladelafont, E., Yildiz, Y., Mastrangelo, M., Pons, R., Friedman, J., Mercimek-Andrews, S., Wong, S.N., Pearson, T.S., Zafeiriou, D.I., Kulhánek, J., Kurian, Manju A., López-Laso, E., Oppebøen, M., Kılavuz, S., Wassenberg, T., Goez, H., Scholl-Bürgi, S., Porta, F., Honzík, T., Santer, R., Burlina, A., Sivri, H.S., Leuzzi, V., Hoffmann, G.F., Jeltsch, K., Hübschmann, D., Garbade, S.F., Verbeek, M.M., García-Cazorla, A., Opladen, T., Hübschmann, O. Kuseyri, Horvath, G., Cortès-Saladelafont, E., Yildiz, Y., Mastrangelo, M., Pons, R., Friedman, J., Mercimek-Andrews, S., Wong, S.N., Pearson, T.S., Zafeiriou, D.I., Kulhánek, J., Kurian, Manju A., López-Laso, E., Oppebøen, M., Kılavuz, S., Wassenberg, T., Goez, H., Scholl-Bürgi, S., Porta, F., Honzík, T., Santer, R., Burlina, A., Sivri, H.S., Leuzzi, V., Hoffmann, G.F., Jeltsch, K., Hübschmann, D., Garbade, S.F., Verbeek, M.M., García-Cazorla, A., and Opladen, T.

Abstract

Contains fulltext : 238541.pdf (Publisher’s version ) (Open Access), Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardized deep phenotyping approach and describes the clinical and biochemical presentation at disease onset as well as diagnostic approaches of 275 patients from the registry of the International Working Group on Neurotransmitter related Disorders. The results reveal an increased rate of prematurity, a high risk for being small for gestational age and for congenital microcephaly in some disorders. Age at diagnosis and the diagnostic delay are influenced by the diagnostic methods applied and by disease-specific symptoms. The timepoint of investigation was also a significant factor: delay to diagnosis has decreased in recent years, possibly due to novel diagnostic approaches or raised awareness. Although each disorder has a specific biochemical pattern, we observed confounding exceptions to the rule. The data provide comprehensive insights into the phenotypic spectrum of neurotransmitter disorders.

Published
2021

8. Erratum: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies (Orphanet Journal of Rare Diseases (2020) 15: 126 DOI: 10.1186/s13023-020-01379-8)

Author

Opladen, T. López-Laso, E. Cortès-Saladelafont, E. Pearson, T.S. Sivri, H.S. Yildiz, Y. Assmann, B. Kurian, M.A. Leuzzi, V. Heales, S. Pope, S. Porta, F. García-Cazorla, A. Honzík, T. Pons, R. Regal, L. Goez, H. Artuch, R. Hoffmann, G.F. Horvath, G. Thöny, B. Scholl-Bürgi, S. Burlina, A. Verbeek, M.M. Mastrangelo, M. Friedman, J. Wassenberg, T. Jeltsch, K. Kulhánek, J. Kuseyri Hübschmann, O.

Abstract

Following the original article's publication [1] the authors asked for the correction of Fig. 2, since the names of the disease genes [GCH1 and PCBD1] in the figure published did not match the listed diseases [AR-GTPCHD and PCDD]. The correct Fig. 2 isshown below: In the context of the manuscript correction and inorder to match he text content, the words "apart from DHPRD" should be removed from the second row and second column of Table 4, as shown below: (Table Presented). © 2020 The Author(s). Reference.

Published
2020

9. Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies (vol 15, 126, 2020)

Author

Opladen T, López-Laso E, Cortés-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, Garcia-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch-Iriberri R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O, and International Working Group on Neurotransmitter related Disorders (iNTD)

Published
2020

10. Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH(4)) deficiencies

Author

Opladen, T., López-Laso, E., Cortès-Saladelafont, E., Pearson, T.S., Sivri, H.S., Yildiz, Y., Assmann, B., Kurian, M.A., Leuzzi, V., Heales, S., Pope, S., Porta, F., García-Cazorla, A., Honzík, T., Pons, R., Regal, L., Goez, H., Artuch, R., Hoffmann, G.F., Horvath, G., Thöny, B., Scholl-Bürgi, S., Burlina, A., Verbeek, M.M., Mastrangelo, M., Friedman, J., Wassenberg, T., Jeltsch, K., Kulhánek, J., Hübschmann, O. Kuseyri, Opladen, T., López-Laso, E., Cortès-Saladelafont, E., Pearson, T.S., Sivri, H.S., Yildiz, Y., Assmann, B., Kurian, M.A., Leuzzi, V., Heales, S., Pope, S., Porta, F., García-Cazorla, A., Honzík, T., Pons, R., Regal, L., Goez, H., Artuch, R., Hoffmann, G.F., Horvath, G., Thöny, B., Scholl-Bürgi, S., Burlina, A., Verbeek, M.M., Mastrangelo, M., Friedman, J., Wassenberg, T., Jeltsch, K., Kulhánek, J., and Hübschmann, O. Kuseyri

Abstract

Contains fulltext : 220626.pdf (publisher's version ) (Open Access), BACKGROUND: Tetrahydrobiopterin (BH(4)) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH(4) biosynthesis or recycling. Hyperphenylalaninemia (HPA) is the first diagnostic hallmark for most BH(4) deficiencies, apart from autosomal dominant guanosine triphosphate cyclohydrolase I deficiency and sepiapterin reductase deficiency. Early supplementation of neurotransmitter precursors and where appropriate, treatment of HPA results in significant improvement of motor and cognitive function. Management approaches differ across the world and therefore these guidelines have been developed aiming to harmonize and optimize patient care. Representatives of the International Working Group on Neurotransmitter related Disorders (iNTD) developed the guidelines according to the SIGN (Scottish Intercollegiate Guidelines Network) methodology by evaluating all available evidence for the diagnosis and treatment of BH(4) deficiencies. CONCLUSION: Although the total body of evidence in the literature was mainly rated as low or very low, these consensus guidelines will help to harmonize clinical practice and to standardize and improve care for BH(4) deficient patients.

Published
2020

12. První český pacient s deficitem aminoacylázy 1.

Author

Procházková, D., Borská, R., Chrastina, P., Fajkusová, L., Konečná, P., Slabá, K., Šenkyřík, J., Pešková, K., Jabandžiev, P., and Honzík, T.

Subjects
EVOKED response audiometry, GAS chromatography/Mass spectrometry (GC-MS), BODY mass index, KNEE, GLYCINE
Abstract

Moznost provést molekulárne genetické potvrzení dia shy;gnózy ACY1D má zásadní vyznam pro rodinu postizeného probanda. Vázená redakce, deficit aminoacylázy 1 (ACY1D) (MIM 609924) patrí mezi vzácné dedicné poruchy metabolizmu a je charakterizován zvysenym vylucováním N-acetylovanych aminokyselin do moci (serin, kyselina glutamová, alanin, methionin, glycin, leucin a valin). V Centru molekulární bio shy;logie a genetiky Interní hemato-onkologické kliniky FN Brno byla provedena analyza DNA genu I ACY1 i pomocí panelového sekvenování nové generace (target sequencing) s vyuzitím SeqCap EZ Choice Library (Roche Nimble-Gene, Madison, WI, USA) na platforme Illumina. [Extracted from the article]

Published
2023

13. Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case

Author

Kousal, B., Honzík, T., Hansíková, H., Ondrušková, N., Čechová, A., Tesařová, M., Viktor Stranecky, Meliška, M., Michaelides, M., and Lišková, P.

Subjects
Male, Base Sequence, Homozygote, Membrane Proteins, Eye, Pedigree, Congenital Disorders of Glycosylation, Phenotype, 3-Oxo-5-alpha-Steroid 4-Dehydrogenase, Mutation, Humans, Female, Amino Acid Sequence, Child
Abstract

Steroid 5α-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG) is a severe metabolic disease manifesting as muscle hypotonia, developmental delay, cerebellar ataxia and ocular symptoms; typically, nystagmus and optic disc pallor. Recently, early onset retinal dystrophy has been reported as an additional feature. In this study, we summarize ocular phenotypes and SRD5A3 variants reported to be associated with SRD5A3-CDG. We also describe in detail the ophthalmic findings in a 12-year-old Czech child harbouring a novel homozygous variant, c.436GA, p.(Glu146Lys) in SRD5A3. The patient was reviewed for congenital nystagmus and bilateral optic neuropathy diagnosed at 13 months of age. Examination by spectral domain optical coherence tomography and fundus autofluorescence imaging showed clear signs of retinal dystrophy not recognized until our investigation. Best corrected visual acuity was decreased to 0.15 and 0.16 in the right and left eye, respectively, with a myopic refractive error of -3.0 dioptre sphere (DS) / -2.5 dioptre cylinder (DC) in the right and -3.0 DS / -3.0 DC in the left eye. The proband also had optic head nerve drusen, which have not been previously observed in this syndrome.

Published
2019

14. Dominantní (Kjerova) atrofie optiku asociovaná s mutacemi v OPA1 genu.

Author

Kelifová, S., Honzík, T., Tesařová, M., Kousal, B., Lišková, P., Havránková, P., and Kolářová, H.

Subjects
*ATROPHY, *VISUAL acuity, *GENETIC mutation, *EXONS (Genetics), *SYMPTOMS
Abstract

Dominant optic atrophy (DOA) is an autosomal dominant disorder manifest--ing by slowly progres-sive painless bilateral visual acuity loss with variable degree of severity. DOA is caused by mutations in nuclear DNA encod--ing proteins as-sociated with the in-ner mitochondrial membrane. Most individuals with DOA harbour a dis-ease-caus--ing mutation in the OPA1 gene; however, other genes and loci as-sociated with DOA have also been identified. First symp-toms usual-ly manifest in the first two decades of life. The dis-ease mechanism lies in neurodegenerative damage of retinal ganglion cel-ls lead--ing to optic nerve atrophy. Decrease of visual acuity is as-sociated with colour vision alterations and central or paracentral visual field defects. On fundoscopic examination, optic head nerve pal-lor can be noticed, occasional-ly with excavation. Extraocular symp-toms are present in some patients, caus--ing so-cal-led DOA plus syndrome. Bilateral sensorineural hear--ing los-s, is the most common one; chronic progres-sive external ophthalmoplegia, myopathy, peripheral neuropathy, multiple sclerosis-like disorder, and spastic paraplegia of lower limbs are rare. Cur-rently, there is no ef-fective treatment available that would prevent the development of visual impairment. Genetic dia-gnostics and fol-low-up of patients with DOA are held in the Centre for Patients with Mitochondrial Optic Neuropathies, General University Hospital in Prague. The aim of this review is to increase awareness of the most com-mon genetical-ly determined optic neuropathy. [ABSTRACT FROM AUTHOR]

Published
2020

15. Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic

Author

Stehlíková, K., primary, Skálová, D., additional, Zídková, J., additional, Haberlová, J., additional, Voháňka, S., additional, Mazanec, R., additional, Mrázová, L., additional, Vondráček, P., additional, Ošlejšková, H., additional, Zámečník, J., additional, Honzík, T., additional, Zeman, J., additional, Magner, M., additional, Šišková, D., additional, Langová, M., additional, Gregor, V., additional, Godava, M., additional, Smolka, V., additional, and Fajkusová, L., additional

Published
2016
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16. Charakteristické klinické příznaky a laboratorní odchylky dědičných poruch metabolismu.

Author

Kolářová, H. and Honzík, T.

Subjects
*INBORN errors of metabolism, *GENETIC disorders, *CARDIOMYOPATHIES, *RHABDOMYOLYSIS, *CEREBROSPINAL fluid examination
Abstract

Introduction: Inborn Errors of Metabolism (IEM) represent a group of >1000 rare genetic disorders that are caused by a defect of single/multiple enzymes or changes in structural, assembling and transporting proteins that participate in metabolic pathways. Since any system can be affected, variable clinical symptoms may occur, leading to a diagnostic delay. Aim: To provide clear overview of the main key clinical and laboratory findings of IEM encountered by both primary health care or hospital physicians – pediatricians. Results: Main clinical features of IEM are represented by developmental regression, pharmacoresistant epilepsy, cardiomyopathy, myopathic syndrome or muscle pain in rhabdomyolysis and hepato-/splenomegaly. As much as 70% of a childhood urolithiasis are caused by one of the IEM. Detailed ophthalmic examination may reveal corneal clouding or cataract, ophthalmoplegia, pigmentary retinopathy and optic neuropathy. Some of the symptoms may be helpful in making the right diagnosis faster at a glance, such as craniofacial dysmorphism, hypertrichosis, atypical structure of adnexa and some bone changes. The main laboratory abnormalities include hypoglycemia, hyperammonemia, dyslipidemia and (cholestatic) hepatopathy. Standardized cerebrospinal fluid examination is crucial for the diagnosis of some of the IEM that can be potentially treatable. Conclusion: Although individual IEM are considered rare, their estimated total prevalence is higher than 1:200. It is therefore very likely, that most physicians will experience at least one of the IEM in their lifetime. Setting up the correct diagnosis is of utmost importance for initiating therapy as for genetic and prenatal counselling. [ABSTRACT FROM AUTHOR]

Published
2018

17. Novorozenecký screening dědičných metabolických poruch v České republice.

Author

Pešková, K., Chrastina, P., Bártl, J., Adam, T., Votava, F., Honzík, T., and Kožich, V.

Subjects
METABOLIC disorders, QUALITY of life, NEWBORN screening, METABOLITE analysis, TANDEM mass spectrometry
Abstract

Copyright of Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2018

18. Nutriční terapie u pacientů s dědičnými poruchami metabolismu.

Author

Floriánková, M., Bláhová, Š., Pencová, M., Honzík, T., and Ješina, P.

Subjects
METABOLIC disorders, DIET therapy, NUTRITION, PROTEIN deficiency, METABOLITES
Abstract

Copyright of Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2018

19. Deficit fosfomanomutázy 2: klinická, biochemická a molekulárně-genetická charakteristika 22 pacientů diagnostikovaných v České republice.

Author

Čechová, A., Ondrušková, N., Tesařová, M., Hansíková, H., Zeman, J., and Honzík, T.

Subjects
PHOSPHOMANNOMUTASE, GLYCOSYLATION, MANNOSE 6-phosphate, TRANSFERRIN, CEREBRAL atrophy
Abstract

Copyright of Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2018

20. Sitosterolémie: klinická, biochemická a molekulárně genetická charakteristika 3letého chlapce s významnou hypercholesterolémií.

Author

Floriánková, M., Urbanová, Z., Bláhová, Š., Pencová, M., Hyánek, J., Tichý, L., Fajkusová, L., Freiberger, T., and Honzík, T.

Abstract

Copyright of Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2017

22. Leberova hereditární neuropatie optiku.

Author

Kolářová, H., Honzík, T., Ďuďáková, Ľ., Kousal, B., Kulhánek, J., Diblík, P., Tesařová, M., Havránková, P., Forgáč, M., Zeman, J., and Lišková, P.

Abstract

Leber hereditary optic neuropathy (LHON) is maternal ly inherited disorder characterized by subacute loss of vision due to impairment of retinal ganglion cel ls eventual ly lead ing to optic atrophy. Three prevalent point mutations in mitochondrial DNA: m.11778G>A, m.3460G>A, and m.14484T>C, are causative in the majority (> 95%) of cases. All of these mutations aff ect one of the subunits of complex I, NADH-ubiquinone oxidoreductase, the fi rst enzyme of the mitochondrial respiratory chain. The presence of a mutation is neces sary but not suffi cient to cause visual los s. The penetrance is incomplete with only about 50% of men and 10% of women event. develop ing clinical signs of the dis ease. Recently, it was proven that early initiation of ther apy with idebenone in patients manifest ing LHON ameliorates visual functions and clinical trials test ing several other promis ing ther apies are underway. Incomplete penetrance, similarites with other disorders affect ing the optic nerve and a great variability of clinical features cause considerable dia gnostic diffi culties. Often there is a delay in ther apy initiation, as late as in the phase of the ir reversible optic nerve damage. In 2013, we established a multidisciplinary medical care centre dedicated to patients with mitochondrial optic neuropathies in General University Hospital in Prague to develop eff ective diagnostic and treatment algorithms and to study the underlying pathogenetic mechanisms. [ABSTRACT FROM AUTHOR]

Published
2017
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24. Aktivita fosfomanomutázy 2 u pacientů s podezřením na dědičnou poruchu glykosylace.

Author

Hansíková, H., Ondrušková, N., Honzík, T., Veselá, K., Horová, E., Švecová, Š., Tesařová, M., and Zeman, J.

Subjects
CONGENITAL disorders, PHOSPHOMANNOMUTASE, GLYCOSYLATION
Abstract

Copyright of Klinická Biochemie a Metabolismus is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2016

28. Enzymová substituční terapie u lysosomálních onemocnění.

Author

Kulhánek, J., Magner, M., Malinová, V., and Honzík, T.

Abstract

Copyright of Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2015

30. Význam klasického cytogenetického vyšetření v pediatrické praxi: zhodnocení 384 indikací.

Author

Šípek Jr., A., Mihalová, R., Panczak, A., Hrčková, L., Janashia, M., Baxová, A., Zeman, J., Honzík, T., and Kohoutová, M.

Subjects
CHROMOSOMES, KARYOTYPES, PEDIATRIC research, INTELLECTUAL disabilities, DOWN syndrome
Abstract

Copyright of Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2014

31. Klinická a laboratorní charakteristika 22 dětí s Kawasakiho nemocí.

Author

Vyhnánková, H., Vyhnánek, R., Dvořáková, V., Kolářová, H., Vitnerová, L., Magner, M., Houšťková, H., Zeman, J., and Honzík, T.

Subjects
MUCOCUTANEOUS lymph node syndrome, COMMUNICABLE diseases in children, SYNDROMES in children, CONJUNCTIVITIS, JUVENILE diseases
Abstract

Copyright of Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2014

32. Nemoc ze střádání esterů cholesterolu (CESD): klinická, laboratorní a histologická charakteristika šesti pacientů.

Author

Mazurová, S., Poupětová, H., Hůlková, H., Ťoukálková, L., Urbanová, Z., Zeman, J., Smolka, V., Malinová, V., and Honzík, T.

Subjects
WOLMAN disease, CHOLESTERYL ester transfer protein, TRIGLYCERIDES, LYSOSOMES, HEPATIC fibrosis
Abstract

Copyright of Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2014

34. Význam časné diagnostiky dědičných metabolických poruch s manifestací v novorozeneckém věku.

Author

Magner, M., Ješina, P., Klement, P., Lorenčík, D., Vobruba, V., Zeman, J., and Honzík, T.

Subjects
METABOLIC disorders, LIVER failure, ALPHA 1-antitrypsin, GALACTOSEMIA, CARDIAC hypertrophy
Abstract

Copyright of Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2013

35. Kvalita života osob pečujících o dítě s dědičným metabolickým onemocněním.

Author

Michalík, J., Valenta, M., Honzík, T., Magner, M., Zeman, J., Hůlková, M., and Ješina, P.

Subjects
METABOLIC disorders in children, LONG-term health care, QUALITY of life, PARENTS of chronically ill children, MUCOPOLYSACCHARIDOSIS
Abstract

Copyright of Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2012

37. Mukopolysacharidóza I - klinické projevy u 24 dĕtí z České republiky a Slovenska.

Author

Ješina, P., Magner, M., Poupĕtová, H., Honzíkova, J., Dvořáková, L., Malinová, V., Hrubá, E., Hlavatá, A., Honzík, T., Veselá, K., Sedláček, P., Starý, J., and Zeman, J.

Subjects
MUCOPOLYSACCHARIDOSIS, GLYCOSAMINOGLYCANS, LYSOSOMAL storage diseases, HEMATOPOIETIC stem cell transplantation, PROGNOSIS
Abstract

Copyright of Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2011

38. [Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)]

Author

Honzík T, Tesarová M, Hansíková H, Krijt J, Benes P, Zámecník J, Wenchich L, and Jiri Zeman

Subjects
Adult, Male, Thymidine Phosphorylase, Gastrointestinal Diseases, Mitochondrial Encephalomyopathies, Mutation, Humans
Abstract

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a disorder with autosomal recessive inheritance caused by mutations in the gene encoding thymidine phosphorylase (TP). TP deficiency results in imbalance of mitochondrial pool of nucleotides leading secondary to multiple deletions and depletion of mitochondrial DNA (mtDNA) and impairment of oxidative phosphorylation system. The disease is clinically characterized by gastrointestinal dysmotility with symptoms of pseudo-obstruction, severe failure to thrive, ptosis, leukoencephalopathy, peripheral neuropathy and myopathy. We present results of the clinical, histochemical, biochemical and molecular analyses of the first Czech patient with MNGIE syndrome.Man, 33-years old with twenty-year history of failure to thrive (height 168 cm, weight 34 kg) and progressive gastrointestinal dysmotility, external ophthalmoplegia, leucoencephalopathy and peripheral neuropathy was recommended to metabolic center. Histochemical analyses in muscle biopsy showed the presence of "ragged red fibers" with focal decrease of cytochrome c oxidase activity, but spectrophotometric analyses in isolated muscle mitochondria revealed normal activities of all respiratory chain complexes. Metabolic investigation revealed markedly increased plasma level of thymidine (6.6 micromol/l, controls0.05 micromol/l) and deoxyuridine (15 micromol/l, controls0.05 micromol/l). The activity of TP in isolated lymphocytes was low (0.02 micromol/hour/mg protein, reference range 0.78 +/- 0.18). Molecular analyses in muscle biopsy revealed multiple mtDNA deletions and homozygous mutation 1419GA (Gly145Arg) was found in gene for TP. Both parents are heterozygotes.MNGIE has to be considered in patients presenting with a combination of gastrointestinal and neurological symptoms. Plasma level of thymidine may serve as the best method for laboratory screening of MNGIE, but molecular analyses are necessary for genetic counselling and prenatal diagnosis in affected families.

44. Carnitine concentrations in term and preterm newborns at birth and during the first days of life

Author

Honzík T, Chrastina R, Hansíková H, Böhm M, Martincová O, Plavka R, Zapadlo M, and Jiri Zeman

Subjects
Male, Carnitine, Infant, Newborn, Humans, Female, Fetal Blood, Infant, Premature
Abstract

Carnitine plays an important role in energetic metabolism. The aim of the study was to characterize the carnitine status in term and preterm newborns with respect to gestational age, birth weight, haematocrit and red blood cell count (RBC). The effect of nutrition on carnitine levels in the first week of life was also studied. Total blood pool of free carnitine (FC), acylcarnitines (AC) and total carnitine (TC) were analysed in whole cord blood and postnatally in capillary blood obtained at the day 4-6 in 33 term newborns and at the day 7-10 in 27 preterm newborns using tandem mass spectrometry. Plasma level of carnitine in the cord blood was measured using radioenzymatic method. Cord plasma levels of FC, AC and TC were higher in preterm newborns in comparison with term newborns (p0.01), but the total blood pool of FC and TC in whole cord blood was lower in preterm newborns than in term newborns (p0.01) and positive correlation was found between FC and gestational age or birth weight (p0.05). In addition, positive correlation was found between AC and red blood cell count or haematocrit (p0.05). During the first week of life, blood pool of FC and TC in term newborns and AC and TC in preterm newborns decreased regardless of the type of enteral or parenteral nutrition. Our results indicate that preterm newborns are born with limited carnitine store. Interpretation of carnitine analyses in whole blood relies in addition to gestational age and birth weight on the haematocrit, especially in newborns with anaemia or blood hyperviscosity.

47. [Congenital disorder of type Ia protein glycosylation: clinical, biochemical and molecular characteristics in 2 siblings with cerebellar hypoplasia]

Author

Honzík T, Malonová E, Hansíková H, Rosipal R, Poupĕtová H, Martásek P, and Jiri Zeman

Subjects
Male, Congenital Disorders of Glycosylation, Phosphotransferases (Phosphomutases), Cerebellum, Mutation, Humans, Infant, Female, Child
Abstract

Congenital disorders of glycosylation (CDG syndrome) represent a newly delineated group of inherited diseases of glycoprotein synthesis. We present results of biochemical and molecular analyses in two Czech patients with CDG Ia syndrome.Serum concentrations of the nonglycosylated and hypoglycosylated transferrin were measured using turbidimetric immunoassay. In positive patients, the isoelectric focusing of serum transferrin and molecular analyses of the gene for phosphomannomutase 2 were performed. The disease manifested in both children in infancy with failure to thrive, inverted nipples, strabismus, epilepsy, muscle hypotonia, microcephaly, psychomotor retardation and hypoplasia of the cerebellum. The biochemical investigation revealed elevated liver enzymes, low concentration of factor XI and protein S. In one child lower concentration of the antithrombin III and protein C were found. Activities of arylsulfatase A and beta-glucuronidase in serum were higher and activity of alpha-mannosidase in leucocytes was lower in comparison with controls. Molecular analyses revealed that both children are compound heterozygotes for the mutation 422GA and 357CA in gene for phosphomanomutase 2. Both siblings are also homozygotes for polymorfism IVS5 + 19 C--T and heterozygygotes for polymorfism IVS5 + 22 T--A.The prognosis of children with CDG Ia is unfavourable. Enzymatic and/or molecular studies are necessary for genetic counselling and the prenatal diagnosis.

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