Long-chain acyl-CoA dehydrogenase deficiency.(LCAD).
Incidence
Rare. Aprox. 28 cases reported. LCAD is a rare disease. There are 2 genotypes. Type 1 (LCAD) myopathic (more common). Type 2 (VLCAD) hepatic
Clinical Characteristics
LCAD #1: Primary cardiomyopathy with myopathy, central hypotonia, hepatomegaly, lactic acidosis, hypoglycem VLCAD #2: Prim. liver failurein previous nl child, acute failure progress to death due to acute liver necrosis. In both :ABSENT KETONES IN ACIDOSIS
Precipitants
Fasting will produce hypoglycemia with absent ketosis. Any infection. Both diseases are progressive, and once a metabolic crisis occur, both lead to a quick death.
Provocation Tests
Oral or IV carnitine loading 200-400mg/kg/d will lead to an increase of acylcarnitines in blood. Fasting of pts. while in carnitine further increase acylcarnitines in blood, to be detected by tandem MS.
Diagnostic Procedures
Long-chain acyl-CoA dehydrogenase deficiency: EB-F, OB-F, DB-F/W