Carnitine palmitoyl transferase (CPT) deficiency. CPT I (infantile hepatic form)
Incidence
Rare. Ten cases reported approx.
Clinical Characteristics
Clinical condition of infancy manifested by nonketotic hypoglycemic coma, marked hepatomegaly, hypertriglyceridemia, even when clinically asymptomatic. Hyperammonemia, Renal tubular acidosis (RTA) may be present. Abn. LFT. Clinical syndrome mimicks Reye's syndrome. There is no dicarboxylic aciduria present. Serum carnitine values are normal or high. The picture is very similar to MCAD deficiency, but there is no dicarboxylic aciduria. Acylcarnitine profile is normal in blood.
Precipitants
no
Provocation Tests
Medium chain fatty triglycerides may be used to document a ketotic response.
Diagnostic Procedures
EB-liver, EB-F, carnitine levels are normal in serum