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Skin and Muscle Indurations in Phenylketonuria
S. Jablonska, MD;
A. Stachow, PhD;
M. Suffczynska, MD
Arch Dermatol. 1967;95(5):443-450.
Abstract
Scleroderma-like skin lesions with involvement of the muscles of the extremities are described in a child with phenylketonuria (PKU) who was observed for five years. Association of the lesions with PKU is indicated by their dependence on the severity of the latter and their pronounced improvement during treatment with hydrolysates devoid of phenylalanine.
Biochemical investigations failed to demonstrate 2,5-dihydroxyphenylpyruvic acid (2,5-DHPPA) but showed abundant conversion of tryptophan to indolelactic acid and indoleacetic acid with depressed metabolism of tryptophan via 5-hydroxytryptophan, serotonin, and 5-hydroxyindolacetic acid.
Author Affiliations
Warsaw
From the Department of Dermatology and the Department of Pediatrics, Warsaw Medical School.
Footnotes
Accepted for publication Dec 27, 1966.
Reprint requests to 82 a Koszykowa, Department of Dermatology, Warsaw Medical School, Warsaw, Poland (Dr. Jablonska).
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