TRYPTOPHAN METABOLISM IN A PATIENT WITH PHENYLKETONURIA AND SCLERODERMA - A PROPOSED EXPLANATION OF INDOLE DEFECT IN PHENYLKETONURIA

  • 1 January 1966
    • journal article
    • research article
    • Vol. 94  (16) , 834-+
Abstract
Phenylketonuria and severe focal scleroderma were observed in a white male child. This is the first instance in which the association of these 2 rare disorders has been reported. Studies carried out on this patient provide a possible explanation for the abnormalities of indole metabolism in phenylketonuria. On an unrestricted diet, when serum phenylalanine levels were elevated, excessive urinary excretion of indolic tryptophan metabolites was seen 18-24 hr. after oral tryptophan loading, and tryptophan was demonstrable in the stool. This was not observed when the serum phenylalanine was within normal limits on a low phenyl- alanine diet. Impaired intestinal tryptophan absorption secondary to elevated serum phenylalanine, by providing tryptophan substrate for bacterial degradation to indolic compounds which are absorved and excreted in the urine, may partially explain the abnormalities of indole metabolism in phenylketonuria.