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Article

Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.

World journal of pediatrics : WJP - 1 May 2014

Zhang Rui-Nan, Li Yi-Fan, Qiu Wen-Juan, Ye Jun, Han Lian-Shu, Zhang Hui-Wen, Lin Na, Gu Xue-Fan

Abstract excerpt

BACKGROUND: Very long chain acyl-CoA dehydrogenase deficiency (VLCADD) is an inherited metabolic disease caused by deleterious mutations in the ACADVL gene that encodes very long chain acyl-CoA dehydrogenase (VLCAD), and which can present as cardiomyopathy in neonates, as hypoketotic hypoglycemia in infancy, and as myopathy in late-onset patients. Although many ACADVL mutations have been described, no prevalent...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24801231
DOI: 10.1007/s12519-014-0480-2

Genes

ACADVL

Variants

Provenance

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