Mitochondrial trifunctional enzyme deficiency
Incidence
Rare. 3 pts reported. It catalize 3 enzymes of Beta-oxidation. All pts. have a defect of LC 3-OHA-CoA dehydrogenase.
Clinical Characteristics
It may produce severe neonatal cardiomyopathy with neonatal neurological distress and early death. A late infantile form with episodic drowsiness, coma and nonketotic hypoglycemia. Cardiac failure and hepatic dysfunction are usual. There is an excess of saturated and unsaturated dicarboxylic acids in the urine. SIDS and rapidly fatal cardiomyopathy have been reported.Some pts. have had muscle weakness and myoglobinuria. Sensori-motor polyneuropathy and pigmentary degeneration of retina has been reported in 2 pts. All pts. have a defect of LC 3-OHA-CoA dehydrogenase.There is increased CPK, ammonia, lactic and pyruvic acids. Liver has steatosis. Muscle has necrosis with minimal lipid storage..
Precipitants
unknown
Provocation Tests
no
Diagnostic Procedures
EB-F. EB-M, EB-H, EB-L. GC/MS in urine.