Long chain L-3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency – trifunctional protein deficiency

LCHAD deficiency was first reported [1,2] in 1983 in a boy who had many attacks of hypoketotic hypoglycemia starting at 9 months-of-age, had hypotonia and cardiomyopathy and went on to develop massive hepatic necrosis, and died at 19 months. There was long chain acyl carnitine accumulation in plasma and 3-hydroxydicarboxylic aciduria. The activity of LCHAD was demonstrated to be defective in an assay in which 3-ketopalmitoyl CoA was the substrate.