Primary cystathioninuria. Methionine load tests and response to pyridoxine.
D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000188:drug therapy / Q000652:urine*; D002648:Child; D003540:Cystathionine / Q000097:blood / Q000652:urine*; D005260:Female; D006801:Humans; D008715:Methionine / Q000097:blood / Q000378:metabolism* / Q000652:urine; D011736:Pyridoxine / Q000627:therapeutic use*
D003540:Cystathionine; D008715:Methionine; D011736:Pyridoxine