Carnitine primary deficiency. Systemic form. (Carnitine transport defect)
Incidence
Associated with a genetic defect of carnitine transport. AR inheritance.
Clinical Characteristics
Main characteristic is weakness of varying severity, may be progressive. In 80% there are reccurent attacks of hepatic insuffiency (Reye\'s like syndr). Muscle biopsy= lipid inclusions mainly in type I fibers.Abn. mitochond. on E.M. Carnitine levels are reduced in plasma, liver and muscle. There associated metabolic acidosis probably due to lactic acidosis, with increased amounts of dicarboxylic acids. Cardiomyopathy may be very severe.
Precipitants
none
Provocation Tests
no
Diagnostic Procedures
EB-F, EB-muscle, EB-liver. Determination of carnitine in serum is low, as well as in muscle.