Report of a patient with severe, chronic lactic acidaemia and pyruvate carboxylase deficiency.
D002908:Chronic Disease; D005650:Fumarates / Q000652:urine; D005943:Gluconeogenesis; D006801:Humans; D006985:Hyperventilation / Q000150:complications; D007223:Infant; D008607:Intellectual Disability / Q000150:complications; D007656:Ketoglutaric Acids / Q000652:urine; D007773:Lactates / Q000097:blood* / Q000652:urine; D008293:Malates / Q000652:urine; D009129:Muscle Tonus; D011596:Psychomotor Disorders / Q000150:complications; D015324:Pyruvate Carboxylase Deficiency Disease; D013386:Succinates / Q000652:urine; D014815:Vitamins / Q000627:therapeutic use
D005650:Fumarates; D007656:Ketoglutaric Acids; D007773:Lactates; D008293:Malates; D013386:Succinates; D014815:Vitamins