Literature summary for 1.3.8.7 extracted from

Purevsuren, J.; Kobayashi, H.; Hasegawa, Y.; Mushimoto, Y.; Li, H.; Fukuda, S.; Shigematsu, Y.; Fukao, T.; Yamaguchi, S.
A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD (2009), Mol. Genet. Metab., 96, 77-79.

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Application

Application	Comment	Organism
medicine	among 11 Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency, mutation c.449-452delCTGA accounts for 45%. Seven of 10 independent patients carried at least one copy of the mutation. Phenotypes of homozygous patients with the c.449-452delCTGA mutation varied from asymtomatic to life-threatening metabolic decompensations	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	among 11 Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency, mutation c.449-452delCTGA accounts for 45%. Seven of 10 independent patients carried at least one copy of the mutation. Phenotypes of homozygous patients with the c.449-452delCTGA mutation varied from asymtomatic to life-threatening metabolic decompensations	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency	-

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Release 2023.1 (January 2023)