Biochemical and histologic pathology in an infant with cross-reacting material (negative) pyruvate carboxylase deficiency.
An infant with the acute neonatal form of pyruvate carboxylase deficiency (cross-reacting material negative) presented with severe intractable lactic acidosis within 4 h after birth. He also had hyperammonemia, hypercitrullinemia, and hyperlysinemia. Plasma glutamine was not elevated. He had a rapidly deteriorating clinical course with severe liver dysfunction, repeated septicemia and seizures; he was comatose and was on a ventilator throughout; death occurred at 8 wk of age. Skin fibroblast study confirmed the enzyme deficiency. Detailed biochemical parameters and histopathology of the brain and liver are presented. The evidence from this infant suggests that disturbances of intracellular oxaloacetate levels as a result of the primary enzyme defect might also contribute to deficiency in ATP generation which may explain the various other biochemical changes and liver pathology.
D000138:Acidosis / Q000201:enzymology; D000596:Amino Acids / Q000097:blood; D000641:Ammonia / Q000097:blood; D001706:Biopsy; D002956:Citrulline / Q000097:blood; D003429:Cross Reactions; D005973:Glutamine / Q000097:blood; D006801:Humans; D007231:Infant, Newborn; D007773:Lactates; D008099:Liver / Q000473:pathology; D008111:Liver Function Tests; D008239:Lysine / Q000097:blood; D008297:Male; D015324:Pyruvate Carboxylase Deficiency Disease
D000596:Amino Acids; D007773:Lactates; D005973:Glutamine; D002956:Citrulline; D000641:Ammonia; D008239:Lysine