Pyruvate carboxylase deficiency. Infantile form.
Incidence
Rare. AR disease. Less than 30 cases
Clinical Characteristics
It is one of the Leighs diseases. It is a bad disease. Periodic acidotic episodes with progressive encephalopathy, mainly motor impairment. 50% die during acidotic episode.
Precipitants
none
Provocation Tests
loading (100 mg/kg IV) increases lactic acid without increasing blood glucose; glucose loading (1 to 2 g/kg IV) increaes blood lactate.
Diagnostic Procedures
EB-F, EB-W, EB-liver, kidney, muscle, brain.