Long-chain acyl-CoA dehydrogenase deficiency.(LCAD). Neonatal form.
Incidence
Rare. LCAD is a rare disease. It can present with major neurological problems neonatally.
Clinical Characteristics
Primary cardiomyopathy with myopathy, central hypotonia, hepatomegaly, lactic acidosis, hypoglycemia. with ABSENT KETONES and with ACIDOSIS. There is hyperammonemia. low carnitine levels and high concentratioins of dicarboxylic acids in the urine. If the patient survives, episodes of metabolic decompensation during fasting appear in infancy and childhood, with microcephaly becoming evident.
Precipitants
Fasting will produce hypoglycemia with absent ketosis. Any infection.
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
EB-F, OB-F, DB-F/W