3-Hydroxyisobutyryl-CoA Hydrolase (HIBCH) Deficiency Cases Diagnosed by Only HIBCH Gene Analysis and Novel Pathogenic Mutation.
HIBCH deficiency
Leigh-like disease
hydroxy-C4 carnitine
valine metabolism
Journal
Annals of Indian Academy of Neurology
ISSN: 0972-2327
Titre abrégé: Ann Indian Acad Neurol
Pays: India
ID NLM: 101273955
Informations de publication
Date de publication:
Historique:
received:
19
03
2020
revised:
30
03
2020
accepted:
07
05
2020
entrez:
27
8
2021
pubmed:
28
8
2021
medline:
28
8
2021
Statut:
ppublish
Résumé
3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is a rare metabolic disease of valine metabolism. Only 22 cases of HIBCH deficiency have been reported in the literature. Our algorithm could help in the diagnosis of this disease. HIBCH gene analysis was performed in all cases. The common features of our five patients from the same family with a developmental delay, seizures, and neurological regression were the elevation of 3-hydroxy-isobutyryl-carnitine and Leigh-like abnormalities. Unlike other patients in the literature, our patients were diagnosed with HIBCH gene analysis, rather than whole exome sequencing (WES). In all our cases, a missense c.452C>T, p. Ser151Leu homozygous novel pathogenic mutation was detected in the HIBCH gene. In cases where HIBCH deficiency is considered in our differential diagnosis algorithm, HIBCH gene analysis, which is cost-effective, should be performed instead of WES, and the number of cases should be increased in the literature.
Identifiants
pubmed: 34447000
doi: 10.4103/aian.AIAN_192_20
pii: AIAN-24-372
pmc: PMC8370149
doi:
Types de publication
Journal Article
Langues
eng
Pagination
372-378Informations de copyright
Copyright: © 2006 - 2021 Annals of Indian Academy of Neurology.
Déclaration de conflit d'intérêts
There are no conflicts of interest.
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