pediatrics
Pyruvate Metabolism Disorders
Pyruvate carboxylase deficiency
, or biotinidase; inheritance for both is Autosomal Recessive , and both result in lactic acidosis. Primary deficiency incidence is<1/250,000 births but may be higher in certain American Indian populations. Psychomotor retardation with seizures and spasticity are the major clinical manifestations. Laboratory abnormalities include hyperammonemia; lactic acidosis; ketoacidosis; elevated levels of plasma lysine, citrulline, alanine, and proline; and increased excretion of alpha-ketoglutarate. Secondary deficiency is clinically similar, with failure to thrive, seizures, and other organic aciduria. Diagnosis of pyruvate carboxylase deficiency is confirmed by enzyme analysis of cultured skin fibroblasts or DNA analysis. There is no effective treatment for pyruvate carboxylase deficiency, but some patients with primary deficiency and all those with secondary deficiencies should be givenbiotinsupplementation 5 to 20 mg orally once a day. 