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);