Congenital lactic acidosis associated with pyruvate carboxylase deficiency. Repository identification No. GM6056.
D000138:Acidosis / Q000235:genetics*; D002262:Carboxy-Lyases / Q000172:deficiency*; D002460:Cell Line; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D007773:Lactates / Q000378:metabolism*; D011767:Pyruvate Decarboxylase / Q000172:deficiency*; D012867:Skin / Q000378:metabolism
D007773:Lactates; D002262:Carboxy-Lyases; D011767:Pyruvate Decarboxylase