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Molecular and clinical findings of Turkish patients with hereditary fructose intolerance.
Molecular and clinical findings of Turkish patients with hereditary fructose intolerance.
- Source :
-
Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2021 Jun 23; Vol. 34 (8), pp. 1017-1022. Date of Electronic Publication: 2021 Jun 23 (Print Publication: 2021). - Publication Year :
- 2021
-
Abstract
- Objectives: Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by a deficiency in aldolase B that can result in hypoglycemia, nausea, vomiting, abdominal pain, liver and kidney dysfunction, coma, and even death. This study aims to represent the clinical features and molecular genetic analysis data of the patients diagnosed with HFI in our study population.<br />Methods: The medical records of the 26 patients with HFI were evaluated retrospectively. Age, gender, clinical findings, metabolic crises, and the results of molecular analyses were recorded.<br />Results: The patients with HFI had a good prognosis and the aversion to sugar-containing foods was the main complaint. Seven different variants were identified in the Aldolase B ( ALDOB ) gene in HFI patients. The most frequent mutations were p.Ala150Pro, p.Ala175Asp had a prevalence of 61 and 30%, respectively, in agreement with the literature and other known variants were found with minor frequencies c.360-363del4(3.8%), p.Asn335Lys(3.8%), and three novel mutations c.113-1&#95;15del4 (3.8%), p.Ala338Val(7.6%), and p.Asp156His(3.8%) were identified at a heterozygous, homozygous, or compound heterozygous level.<br />Conclusions: This study results revealed three novel mutations in patients with HFI. On the basis of age of presentation, clinical symptoms, and metabolic crisis, there was no clear-cut genotype-phenotype correlation. This article also demonstrates the importance of screening suspected infants in cases of acute liver failure for prompt diagnosis and treatment of HFI.<br /> (© 2021 Walter de Gruyter GmbH, Berlin/Boston.)
- Subjects :
- Adolescent
Adult
Child
Child, Preschool
Female
Follow-Up Studies
Fructose Intolerance genetics
Fructose Intolerance pathology
Heterozygote
Homozygote
Humans
Infant
Male
Middle Aged
Prognosis
Retrospective Studies
Turkey epidemiology
Young Adult
Fructose Intolerance epidemiology
Fructose-Bisphosphate Aldolase genetics
Genetic Predisposition to Disease
Medical Records statistics & numerical data
Mutation
Subjects
Details
- Language :
- English
- ISSN :
- 2191-0251
- Volume :
- 34
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- Journal of pediatric endocrinology & metabolism : JPEM
- Publication Type :
- Academic Journal
- Accession number :
- 34162028
- Full Text :
- https://doi.org/10.1515/jpem-2021-0303