The enzyme complex has many different subunits, and various genetic defects can cause deficiency. Clinical manifestations include lactic acidemia, ataxia, psychomotor retardation, and cystic lesions of the cerebral cortex, brain stem, and basal ganglia. Diagnosis is confirmed by demonstrating the absence of enzymatic activity in skin fibroblasts. There is no effective treatment, although a low-carbohydrate or ketogenic diet and dietary thiamine supplementation have been tried. Pyruvate Carboxylase Deficiency Inheritance of pyruvate carboxylase deficiency is autosomal recessive.
Psychomotor retardation is usually the major clinical manifestation.
Diagnosis is confirmed by demonstrating decreased enzymatic activity in skin fibroblasts. No effective treatment exists. All rights reserved.