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Article

Multiple acyl-CoA dehydrogenation deficiency as decreased acyl-carnitine profile in serum.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jun 2015

Wen Bing, Li Duoling, Li Wei, Zhao Yuying, Yan Chuanzhu

Abstract excerpt

We report a case with late onset riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency (MADD) characterized by decreased acyl-carnitine profile in serum which is consistent with primary systemic carnitine deficiency (CDSP) while just the contrary to a typical MADD. This patient complained with muscle weakness, muscle pain and intermittent vomiting, and was diagnosed as polymyositis, received...

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Share to Acyl Coenzyme A
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Electron-Transferring Flavoproteins

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Source

Identifiers

PMID: 25827849
DOI: 10.1007/s10072-015-2197-y

Genes

MADD
ETFDH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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