Pyruvate dehydrogenase (PDH) deficiency. E2 subunit deficiency
Incidence
Very rare (4 pts)
Clinical Characteristics
May present with severe lactic acidosis and hyperammonemia in first month of life, developing later mental retardation and microcephaly
Precipitants
High carbohydrate diet
Provocation Tests
no
Diagnostic Procedures
Pyruvate dehydrogenase deficiency. E2 subunit deficiency: EB-F.