Vitamin B6 responsive infantile convulsions and branched chain amino aciduria.
This study reports of a case with neo-natal convulsions and branched amino-aciduria in addition to tryptophanuria. These abnormalities were promptly corrected by administration of pyridoxine.
D000328:Adult; D000597:Amino Acids, Branched-Chain / Q000652:urine*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000188:drug therapy*; D008297:Male; D011736:Pyridoxine / Q000627:therapeutic use*; D012640:Seizures / Q000188:drug therapy* / Q000209:etiology; D014364:Tryptophan / Q000652:urine
D000597:Amino Acids, Branched-Chain; D014364:Tryptophan; D011736:Pyridoxine