Hypouricemic, mentally retarded infant with a defect of 5-phosphoribosyl-1-pyrophosphate synthetase of erythrocytes.
D000255:Adenosine Triphosphate / Q000032:analysis; D000577:Amides; D001853:Bone Marrow / Q000473:pathology; D001854:Bone Marrow Cells; D004912:Erythrocytes / Q000201:enzymology*; D005954:Glucosephosphate Dehydrogenase / Q000378:metabolism; D006019:Glycolysis; D006801:Humans; D007093:Imidazoles; D007223:Infant; D008607:Intellectual Disability / Q000378:metabolism*; D008297:Male; D009963:Orotic Acid / Q000652:urine; D010734:Phosphogluconate Dehydrogenase / Q000378:metabolism; D010770:Phosphotransferases / Q000172:deficiency*; D014527:Uric Acid / Q000097:blood* / Q000134:cerebrospinal fluid / Q000652:urine
D000577:Amides; D007093:Imidazoles; D014527:Uric Acid; D009963:Orotic Acid; D000255:Adenosine Triphosphate; D010734:Phosphogluconate Dehydrogenase; D005954:Glucosephosphate Dehydrogenase; D010770:Phosphotransferases