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3-Hydroxyacyl-CoA dehydrogenase deficiency

Definition:

3-Hydroxyacyl-CoA dehydrogenase (HADH, SCHAD) deficiency is an autosomal recessive metabolic disorder, resulting from mutations in the HADH gene. HADH deficiency is one of the mitochondrial fatty acid oxidation disorders that has been the most recently described only in a few patients. The clinical phenotype of most patients that have been described is recurrent hypoglycemia associated with hyperinsulinism.

References:

[1]. Esmeralda Martins, et al. Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases. J Inherit Metab Dis. 2011 Jun;34(3):835-42. [Content Brief]

[2]. Laura Vilarinho, et al. Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening. Mol Genet Metab. 2012 Jul;106(3):277-80. [Content Brief]

[3]. Song-Yu Yang, et al. 3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease. FEBS J. 2005 Oct;272(19):4874-83. [Content Brief]

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