Carnitine palmitoyl transferase (CPT) deficiency. CPT II (fatal newborn multisystem form)
Incidence
Very rare. Reported in 7 patients.
Clinical Characteristics
Is a newborn condition. It is a severe multiorgan disorder which is rapidly lethal. There is lethargy, hypotonia, seizures, hyperreflexia, cardiomegaly, hepatomegaly, and renal cysts. cardiac arrhythmia may occur. Blood sugar is low. Generalized lethal disease with reduced enzyme activity in multiple organs, reduced concentrations of free and total carnitine & increased concentrations of lipids and acylcarnitines. There is multiorgan infiltration of fine dropplets of fat
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
EB-F. Serum carnitine is low, but urinary carnitine is normal. Elevated long-chain acyl-carnitines in blood.