" /> 3-hydroxyacyl-coa dehydrogenase deficiency - CISMeF





Preferred Label : 3-hydroxyacyl-coa dehydrogenase deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hadh deficiency; Schad deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the L-3-hydroxyacyl-CoA dehydrogenase gene (HAD, 601609.0001).;

Laboratory abnormalities : Hypoglycemia; Myoglobinuria (reported in 1 patient); Dicarboxylic aciduria; Some tissues may have normal levels of 3-hydroxyacyl-CoA dehydrogenase activity; Decreased activity of 3-hydroxyacyl-CoA dehydrogenase in various tissues (liver, muscle, fibroblasts);

Prefixed ID : #231530;

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04/05/2025


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