Hyperhomocysteinemia in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
electron-transfer flavoprotein dehydrogenase
inheritance mode
riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
variant
Journal
Muscle & nerve
ISSN: 1097-4598
Titre abrégé: Muscle Nerve
Pays: United States
ID NLM: 7803146
Informations de publication
Date de publication:
Nov 2023
Nov 2023
Historique:
revised:
06
08
2023
received:
23
03
2023
accepted:
07
08
2023
pubmed:
22
8
2023
medline:
22
8
2023
entrez:
22
8
2023
Statut:
ppublish
Résumé
Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (RR-MADD) is an autosomal recessive disease chiefly caused by variants of ETFDH affecting fatty acid metabolism. In our cohort, hyperhomocysteinemia (HHcy) was common. In this study we aimed to identify the association between RR-MADD and HHcy. We performed a retrospective review of 13 patients with RR-MADD. Thirty-three healthy controls were recruited, and logistic regression was used to investigate the association between RR-MADD and HHcy. Muscle tissues from six patients and six controls without myopathies were collected to measure the levels of flavin adenine dinucleotide (FAD), an active form of riboflavin. Whole-exome sequencing was performed to identify the disease-associated variants. The RR-MADD patients had a higher prevalence of HHcy (9 of 12) than controls (6 of 33, P < .001). In the multivariate analysis, RR-MADD was positively related to HHcy (P = .014). Muscular FAD levels were decreased in RR-MADD patients (P = .006). Thirteen variants (8 reported and 5 novel) were identified in ETFDH. Of these, c.250G > A was the most common pathogenic variant with an allelic frequency of 4 of 20. HHcy was associated with RR-MADD and may aid in the diagnosis of the disease. Our findings expand the mutational spectrum of RR-MADD.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
750-757Subventions
Organisme : Shanxi Science and Technology Department
ID : 20210302123245
Informations de copyright
© 2023 Wiley Periodicals LLC.
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