3-Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency-A novel disorder of valine metabolism.
3-hydroxyisobutyrate dehydrogenase
3-hydroxyisobutyrate dehydrogenase deficiency
3-hydroxyisobutyric aciduria
HIBADH
HIBADH deficiency
branched-chain amino acids
valine degradation
Journal
Journal of inherited metabolic disease
ISSN: 1573-2665
Titre abrégé: J Inherit Metab Dis
Pays: United States
ID NLM: 7910918
Informations de publication
Date de publication:
11 2021
11 2021
Historique:
revised:
04
06
2021
received:
30
10
2020
accepted:
14
06
2021
pubmed:
28
6
2021
medline:
4
2
2022
entrez:
27
6
2021
Statut:
ppublish
Résumé
3-Hydroxyisobutyric acid (3HiB) is an intermediate in the degradation of the branched-chain amino acid valine. Disorders in valine degradation can lead to 3HiB accumulation and its excretion in the urine. This article describes the first two patients with a new metabolic disorder, 3-hydroxyisobutyrate dehydrogenase (HIBADH) deficiency, its phenotype and its treatment with a low-valine diet. The detected mutation in the HIBADH gene leads to nonsense-mediated mRNA decay of the mutant allele and to a complete loss-of-function of the enzyme. Under strict adherence to a low-valine diet a rapid decrease of 3HiB excretion in the urine was observed. Due to limited patient numbers and intrafamilial differences in phenotype with one affected and one unaffected individual, the clinical phenotype of HIBADH deficiency needs further evaluation.
Substances chimiques
Hydroxybutyrates
0
Alcohol Oxidoreductases
EC 1.1.-
3-hydroxyisobutyrate dehydrogenase
EC 1.1.1.31
Valine
HG18B9YRS7
3-hydroxyisobutyric acid
K75C8JDF5W
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1323-1329Informations de copyright
© 2021 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.
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