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Mucopolysaccharidosis are multisystem diseases that require large multidisciplinary teams for their care. Specific recommendations are therefore needed for the transition from childhood to adulthood in this patient group. To overcome the barriers that might arise during the transition, the authors consider it essential to implement a flexible plan with a coordinator for the entire process, systematising the information through a standardised paediatric discharge report and educating the patient and their family about the disease, showing the characteristics of the healthcare system in this new stage. The final objective is that, once the transition to adulthood has been completed, the patient's autonomy and potential development are maximised and that the patient receives appropriate healthcare during this transition., (Copyright © 2017 Elsevier España, S.L.U. and Sociedad Española de Medicina Interna (SEMI). All rights reserved.)

Introduction: Supraventricular tachycardia (SVT) is the most common arrhythmia in the neonatal period, but its association with other triggering processes is not well established. The aim of the study was to analyse the possible relationship between neonatal SVT and gastroesophageal reflux disease (GERD), a condition which was recently linked to atrial arrhythmias., Material and Methods: A retrospective longitudinal descriptive study was conducted over a period of 5years on newborns who were diagnosed with SVT in a level III neonatal unit, assessing morphological aspects, associated symptoms, and treatments received. Its association with GERD and the impact of this on SVT was studied., Results: Eighteen patients (1.2 per 1000 newborns) were diagnosed with SVT. Fifty percent of them were combined with clinically significant GERD (P=.01), and all of them received drug treatment. The average time of control of SVT without GERD since diagnosis was 6 days (95% CI: 2.16-9.84, with a median of 3) and 7.6 days when both pathologies were present (95% CI: 4.14-10.9, with a median of 7) (P=.024)., Conclusions: Patients with SVT in the neonatal period frequently have GERD, and this combination leads to more difficulty in controlling the tachycardia. The reflux could act as a trigger or perpetuator of arrhythmia, therefore it is important to find and treat GERD in infants with SVT., (Copyright © 2016 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.)

Background and Objective: The transition process from paediatric to adult care is a subject of great interest in recent years, especially in chronic diseases with childhood onset, such as inborn errors of metabolism (IEM). Advances in diagnosis and treatment of these diseases have improved their prognosis, with a high number of patients with IEM who currently reach adult age and need to be attended to by non-paediatric professionals. The objective of this work is to establish action guidelines so that the specialists involved can guarantee a successful transition of these patients' healthcare., Methodology: After carrying out a bibliographic review of the subject, the authors, beginning with their own experience, produced an initial document which was subjected to successive debates until the final document was obtained. The consensus recommendation was decided by the majority in case of criterion discrepancy., Results: A series of recommendations are presented for the best clinical management of the transitions of care of patients with IEM from the paediatric to adult care setting in order to achieve the best results in this process given the special characteristics of this patient subgroup and the main difficulties entailed in the transition process., Conclusions: The role of the internal medicine doctor in this transition process and correct interrelation with the paediatric and social setting is stressed. Furthermore, actions and attitudes are suggested to improve the quality of said transition., (Copyright © 2016 Elsevier España, S.L.U. All rights reserved.)

Background and Objective: Mineral bone disease is more common in phenylketonuric patients. The objectives of this study were to determine the usefulness of biochemical bone markers to identify phenylketonuric patients with mineral bone disease (MBD) and know the underlying bone remodeling alterations., Patients and Method: Cross-sectional study of 43 phenylketonuric patients>7 years (range: 7.1-41 years). A nutritional survey was performed and bone alkaline phosphatase (BAP), procollagen type 1 N-terminal propeptide (PNP-1), beta-crosslaps and ratio calcium/creatinine in urine were determined., Results: A percentage of 20.9 of patients had pathological biochemical bone markers, 90% of them being adults. BAP was decreased in 70% of them and beta-crosslaps in 42.8%. BAP values were more often pathological in phenylketonuric patients with a late diagnosis (41.7 vs. 10.7%; P<.05) and in patients with MBD (60 vs. 14.3%; P<.05). PNP-1 values and calcium/creatinine were similar among all phenylketonuric patients regardless of presenting MBD, late diagnosis or tetrahydrobipterin treatment (enzyme cofactor). Patients with decreased BAP and beta-crosslaps had lower natural protein intake: BAP (0.21 ± 0.13 vs. 0.65 ± 0.65 g/kg; P<.05); beta-crosslaps (0.29 ± 0.23 vs. 0.65 ± 0.66 g/kg; P<.05). None of the tetrahydrobiopterin treated patients showed altered values of BAP, PNP-1 or calcium/creatinine., Conclusions: Adult phenylketonuric patients with lower natural protein intake tend to have lower values of BAP, which is a marker that may be useful to identify patients at risk for MBD., (Copyright © 2013 Elsevier España, S.L.U. All rights reserved.)

Introduction: Patent ductus arteriosus (PDA) is a common problem in preterm newborns. Left vocal cord paralysis (LVCP) can complicate surgical closure if the recurrent nerve is damaged., Materials and Methods: A retrospective case series study was conducted on preterm babies diagnosed with PDA in our unit from 1999 to 2013. Their clinical features and treatment complications were reviewed. In those patients that received surgical treatment a telephone questionnaire on the symptoms of LVCP symptoms was completed, and laryncoscopy examination offered., Results: A total of 88 subjects diagnosed with PDA were found, of whom 13.64% (12/88) needed surgery. These patients had a lower gestational age and birth weight. They required mechanical ventilation more frequently, and they had more complications such as, diaphragmatic paralysis, bronchopulmonary dysplasia and intraventricular hemorrhage. One third (3/9) of the surgically treated patients had LVCP, and all of them had dysphonia (100% vs. 16.7%, p=.05)., Discussion: LVCP is a common complication of PDA surgery. Further studies are needed to determine its risk factors and its short and long-term consequences., (Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.)

Introduction: Extrauterine growth restriction affects most premature newborns. Early and higher parenteral protein intake seems to improve postnatal growth and associated comorbidities. We evaluate the impact of a new parenteral nutrition protocol based on early amino acid administration on postnatal growth in premature infants with a birth weight < 1,500 grams., Material and Methods: A case-control study in 58 premature newborns with a birth weight < 1,500 grams. In the case group we included 29 preterm neonates who received at least 1.5 g/kg/day parenteral amino acid during the first 24 hours after birth, reaching a maximum dose of 3.5 g/kg/day on the 3(rd)-4(th) day after birth. The control group was formed by 29 preterm neonates for whom protein support began on the 2(nd-)3(rd) day after birth with a dose of 1g/kg/day with lower daily increases than the case group. Growth rates and complications were followed until 28 days of life or discharge from NICU., Results: There were no differences between groups in baseline characteristics. Premature newborns who received higher and earlier doses of proteins had a greater weight gain than the control group, and this difference was statistically significant (423 ± 138 g vs. 315 ± 142 g; P=.005). In addition, they had a higher daily weight gain rate (19.4 ± 3.3 vs. 16.5 ± 4.8; P=.010) and they regained birth weight earlier (11.5 ± 3.3 days vs. 14.5 ± 4.5 days; P=.045). A higher incidence of complications was not observed., Conclusions: Early and higher amino acid administration improves growth rate in premature neonates with no apparent increase in risks for the patient., (Copyright © 2010 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.)

Objectives: To determine the prevalence of homocystinuria in Spain and to establish the measures and mechanisms to ensure its prevention, diagnosis and treatment., Material and Methods: A national cross-sectional survey was conducted by means of a questionnaire sent to 35 hospitals in which children and adult patients are treated., Results: Using the questionnaires submitted by 25 physicians from 16 centres, 75 patients were identified: 41 transsulphuration defects (one deceased), 27 remethylation (six deaths) and 7 without a syndromic diagnosis. The age at diagnosis varied widely, and 18 cases had more than one sibling affected. The more severe clinical manifestations involved the patients with remethylation defects. There was a high percentage of cognitive impairment, followed by lens diseases. Almost half of the patients had neurological disorders. There was increased vascular involvement in CBS-deficient adults. The therapeutic options most used were, folic acid, hydroxycobalamin and betaine., Conclusions: In view of these results and especially the small number of CBS deficiencies detected, we conclude that there is a need to introduce newborn screening for classical homocystinuria and ensure implementation of an appropriate diagnostic workup in all patients at risk., (Copyright © 2010 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.)

Background and Objective: To evaluate clinical, biochemical and genetic findings of two series of patients with biotinidase deficiency., Patients and Method: Fifteen cases detected through newborn screening and six through selective screening for hearing loss or metabolic disease., Results: No patient detected by neonatal screening had symptoms and only one case with partial biotinidase activity developed myoclonic seizures that resolved with biotin. More common mutations found among this group were p.D444H and the double mutation [p.D444H;p.A171T]. However, neurological and hearing manifestations predominated among the six symptomatic cases and mutations p.L32fs, p.G34fs, p.T401I, p.D444H, p.T532M and the novel one p.L466fs were identified. Patients with profound biotinidase deficiency and/or clinical signs were treated with pharmacological doses of biotin (10-30mg daily)., Conclusion: Biotinidase deficiency must be included in the newborn screening programmes in order to begin early treatment even in partial forms. Different mutations found in both series of patients suggest that routine genetic procedure of the BTD gene by direct sequencing might be useful to assign patients to the partial or profound form of the disease., (Copyright © 2010 Elsevier España, S.L. All rights reserved.)

Tyrosinemia type I is a potentially lethal disease if not diagnosed and treated properly. Diagnostic and therapeutic advances in recent years have significantly improved the prognosis for these patients. It is therefore important that the pediatrician has a clinical practice guideline with recommendations for diagnosis and treatment of this disease that leads to the appropriate intervention., (Copyright © 2010 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.)

Symptomatic hyperammonaemia in newborn is a medical emergency that should be recognised in its early stages, specifically diagnosed and aggressively treated to improve the immediate and long-term prognosis of these children. The paediatrician and the neonatal doctor should have a diagnosis-therapy scheme for its urgent management.