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Article

Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.

Journal of inherited metabolic disease - 1 Jun 2011

Martins Esmeralda, Cardoso M Luis, Rodrigues Esmeralda, Barbot Clara, Ramos Altina, Bennett Michael J, Teles Elisa Leão, Vilarinho Laura

Abstract excerpt

Short-chain 3-hydroxyacyl-CoA dehydrogenase (HADH, SCHAD) deficiency (OMIM #231530) represents a recently described disorder of mitochondrial fatty acid beta-oxidation, with less than ten cases described worldwide. The main clinical presentation of this metabolic disease is different from other inherited defects of fatty acid β-oxidation as the hypoglycemia is associated with hyperinsulinism. We present the...

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Identifiers

PMID: 21347589
DOI: 10.1007/s10545-011-9287-7

Genes

HADH

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