Beta-ketothiolase deficiency as a cause of the "ketotic hyperglycinemia syndrome".
D000090:Acetoacetates / Q000652:urine; D000138:Acidosis / Q000201:enzymology*; D000217:Acyltransferases / Q000378:metabolism*; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D002074:Butanones / Q000096:biosynthesis / Q000652:urine; D002250:Carbon Radioisotopes; D002648:Child; D002855:Chromatography, Thin Layer; D003065:Coenzyme A / Q000378:metabolism; D004140:Dinitrophenols / Q000652:urine; D005347:Fibroblasts / Q000378:metabolism; D005998:Glycine / Q000097:blood / Q000378:metabolism*; D006801:Humans; D006835:Hydrazones / Q000652:urine; D006885:Hydroxybutyrates / Q000652:urine; D007532:Isoleucine / Q000378:metabolism*; D008314:Malonates / Q000378:metabolism; D011422:Propionates / Q000378:metabolism
D000090:Acetoacetates; D002074:Butanones; D002250:Carbon Radioisotopes; D004140:Dinitrophenols; D006835:Hydrazones; D006885:Hydroxybutyrates; D008314:Malonates; D011422:Propionates; D007532:Isoleucine; D000217:Acyltransferases; D003065:Coenzyme A; D005998:Glycine