Thiamine-responsive lactice acidosis in a patient with deficient low-KM pyruvate carboxylase activity in liver.
D000138:Acidosis / Q000378:metabolism* / Q000628:therapy; D000324:Adrenocorticotropic Hormone / Q000494:pharmacology; D000409:Alanine / Q000097:blood; D000596:Amino Acids / Q000097:blood; D004035:Diet Therapy; D005260:Female; D005943:Gluconeogenesis; D006801:Humans; D007003:Hypoglycemia / Q000378:metabolism; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology; D007658:Ketone Oxidoreductases / Q000378:metabolism; D007773:Lactates / Q000097:blood / Q000378:metabolism*; D007962:Leukocytes / Q000201:enzymology; D008025:Ligases / Q000032:analysis*; D008099:Liver / Q000201:enzymology*; D011596:Psychomotor Disorders / Q000378:metabolism; D011773:Pyruvates / Q000097:blood / Q000378:metabolism; D012867:Skin / Q000201:enzymology; D013831:Thiamine / Q000008:administration & dosage / Q000378:metabolism / Q000627:therapeutic use*
D000596:Amino Acids; D007773:Lactates; D011773:Pyruvates; D000324:Adrenocorticotropic Hormone; D007658:Ketone Oxidoreductases; D008025:Ligases; D000409:Alanine; D013831:Thiamine