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Article

Riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases, and a literature review in mainland Chinese patients.

Journal of human genetics - 1 May 2014

Zhu Min, Zhu Xuan, Qi Xueliang, Weijiang Ding, Yu Yajing, Wan Hui, Hong Daojun

Abstract excerpt

Multiple Acyl-CoA dehydrogenation deficiency (MADD) is an autosomal recessive disorder of fatty acid oxidation and amino-acid metabolism. Most patients with late-onset MADD are well responsive to treatment with riboflavin, which is also termed as riboflavin-responsive MADD (RR-MADD). In this study, we summarized the clinical profiles and genetic features of 13 Chinese patients with RR-MADD and reanalyzed the...

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Source

Identifiers

PMID: 24522293
DOI: 10.1038/jhg.2014.10

Genes

MADD
ETFDH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases, and a literature review in mainland Chinese patients.PMID 24522293Read ↗

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