ABSTRACT
Hypoketotic hypoglycemia, episodic rhabdomyolysis, hypotonia, cardiomyopathy, hepatic disease, peripheral neuropathy, pigmentary retinopathy, 3-hydroxydicarboxylic aciduria, elevation of characteristic long-chain acylcarnitines and defective activity of the trifunctional protein or isolated deficiency of the long-chain L-3-hydroxyacyl-CoA dehydrogenase (LCHAD) subunit or the long-chain ketothiolase subunit are the major phenotypic expression. Maternal acute fatty liver of pregnancy during carriage of a fetus with LCHAD deficiency. The LCHAD enzyme is a component of the trifunctional protein bound to the inner mitochondrial membrane. Patients with LCHAD deficiency usually present in late infancy with the typical clinical picture of a disorder of fatty acid oxidation of which the hallmark feature is acute hypoketotic hypoglycemia.
