Pyruvate dehydrogenase phosphatase deficiency
Incidence
Extremely rare (4 pts). Never seen in Saudi Arabia.
Clinical Characteristics
Neonatal onset Leigh disease, death < 1 year. It is the most severe type of Leigh's disease. It is a congenital lactic acidemia.
Precipitants
none
Provocation Tests
Glucose loading (1 g/kg IV) or L-Alanine loading (110 to 200 mg/kg IV) leads to sustained hyperlactic acidemia.
Diagnostic Procedures
EB-liver, muscle and brain.