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

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 (LCKAT) subunit. Maternal acute fatty liver of pregnancy during carriage of a fetus with LCHAD deficiency.