A new patient with 4-hydroxybutyric aciduria, a possible defect of 4-aminobutyrate metabolism.
D000592:Amino Acid Metabolism, Inborn Errors / Q000378:metabolism* / Q000628:therapy; D002648:Child; D002675:Child, Preschool; D005971:Glutamates / Q000097:blood; D018698:Glutamic Acid; D006801:Humans; D006884:Hydroxybutyrate Dehydrogenase / Q000172:deficiency*; D006885:Hydroxybutyrates / Q000652:urine*; D008297:Male; D012978:Sodium Oxybate / Q000097:blood / Q000134:cerebrospinal fluid / Q000652:urine*; D014635:Valproic Acid / Q000627:therapeutic use; D005680:gamma-Aminobutyric Acid / Q000378:metabolism
D005971:Glutamates; D006885:Hydroxybutyrates; D018698:Glutamic Acid; D005680:gamma-Aminobutyric Acid; D014635:Valproic Acid; D012978:Sodium Oxybate; D006884:Hydroxybutyrate Dehydrogenase; C019416:4-hydroxybutyrate dehydrogenase