Optic neuropathy linked to ACAD9 pathogenic variants: A potentially riboflavin-responsive disorder?
ACAD9
Complex I
Optic neuropathy
Riboflavin
Journal
Mitochondrion
ISSN: 1872-8278
Titre abrégé: Mitochondrion
Pays: Netherlands
ID NLM: 100968751
Informations de publication
Date de publication:
07 2021
07 2021
Historique:
received:
06
04
2021
revised:
19
05
2021
accepted:
19
05
2021
pubmed:
24
5
2021
medline:
27
1
2022
entrez:
23
5
2021
Statut:
ppublish
Résumé
Mitochondrial complex I (CI) deficiencies (OMIM 252010) are the commonest inherited mitochondrial disorders in children. Acyl-CoA dehydrogenase 9 (ACAD9) is a flavoenzyme involved chiefly in CI assembly and possibly in fatty acid oxidation. Biallelic pathogenic variants result in CI dysfunction, with a phenotype ranging from early onset and sometimes fatal mitochondrial encephalopathy with lactic acidosis to late-onset exercise intolerance. Cardiomyopathy is often associated. We report a patient with childhood-onset optic and peripheral neuropathy without cardiac involvement, related to CI deficiency. Genetic analysis revealed compound heterozygous pathogenic variants in ACAD9, expanding the clinical spectrum associated to ACAD9 mutations. Importantly, riboflavin treatment (15 mg/kg/day) improved long-distance visual acuity and demonstrated significant rescue of CI activity in vitro.
Identifiants
pubmed: 34023438
pii: S1567-7249(21)00073-8
doi: 10.1016/j.mito.2021.05.002
pii:
doi:
Substances chimiques
Acyl-CoA Dehydrogenases
EC 1.3.-
ACAD9 protein, human
EC 1.3.99.-
Riboflavin
TLM2976OFR
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
169-174Informations de copyright
Copyright © 2021 Elsevier B.V. and Mitochondria Research Society. All rights reserved.