Pyruvate carboxylase deficiency. Neonatal form
Incidence
Rare. AR disease. Gene located in long arm of chromosome 11. Less than 30 cases. Defect of gluconeogenesis.
Clinical Characteristics
Severe neonatal lactic metab. acidosis. Extreme hypotonia at birth, respiratory distress and lethargy. Death 10 d - 3 months. In 50% associated with mild hypoglycemia. Very important for diagnosis is Lactic/Pyruvate ratio in blood is > 25 (nl <25). Also Beta-hydroxybutirate/Acetoacetate ratio is < 2 (nl >2) in blood.
Precipitants
none
Provocation Tests
no
Diagnostic Procedures
EB-F, EB-W, EB-liver, EB-kidney, EB-muscle, EB-brain. Very important for diagnosis is Lactic/Pyruvate ratio in blood is > 25 (nl <25). Also Beta-hydroxybutirate/Acetoacetate ratio is < 2 (nl >2) in blood.