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Article

Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency.

Human genetics - 1 Jun 2010

Shirao Kenichiro, Okada Satoshi, Tajima Go, Tsumura Miyuki, Hara Keiichi, Yasunaga Shin'ichiro, Ohtsubo Motoaki, Hata Ikue, Sakura Nobuo, Shigematsu Yosuke, Takihara Yoshihiro, Kobayashi Masao

Abstract excerpt

Short-chain acyl-CoA dehydrogenase (SCAD) is a mitochondrial enzyme involved in the beta-oxidation of fatty acids. Genetic defect of SCAD was documented to cause clinical symptoms such as progressive psychomotor retardation, muscle hypotonia, and myopathy in early reports. However, clinical significance of SCAD deficiency (SCADD) has been getting ambiguous, for some variants in the ACADS gene, which encodes the...

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Share to Amino Acid Metabolism, Inborn Errors
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20376488
DOI: 10.1007/s00439-010-0822-7

Genes

ACADS

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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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