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Article

Hyperhomocysteinemia in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

Muscle & nerve - 1 Nov 2023

Zhang Huiqiu, Zhao Rongjuan, Ma Jing, Zhang Jingfei, Wang Juan, Chang Xueli, Guo Junhong, Zhang Wei

Abstract excerpt

INTRODUCTION/AIMS: 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. METHODS: We performed a retrospective review of 13 patients with RR-MADD. Thirty-three...

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Share to Electron-Transferring Flavoproteins
Share to Flavin-Adenine Dinucleotide

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Iron-Sulfur Proteins

Share to Multiple Acyl Coenzyme A Dehydrogenase Deficiency

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Share to Oxidoreductases Acting on CH-NH Group Donors

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Source

Identifiers

PMID: 37606529
DOI: 10.1002/mus.27960

Genes

MADD
ETFDH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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