Phenylketonuria and scleroderma

A diagnosis of scleroderma and phenylketonuria was made in an 18-month-old girl. This is the third recorded incidence of the association of these two disorders. Following institution of a low phenylalanine diet, there was softening of the severe sclerodermatous lesions on the trunk and lower extremi...

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Published inThe Journal of pediatrics Vol. 73; no. 4; pp. 571 - 575
Main Authors Kornreich, Helen Kass, Shaw, Kenneth N.F., Koch, Richard, Hanson, Virgil
Format Journal Article
LanguageEnglish
Published United States Mosby, Inc 01.10.1968
Subjects
Adolescent
Amino Acids - urine
Child
Child, Preschool
Chromatography, Paper
Diet Therapy
Female
Humans
Imidazoles - urine
Indoles - urine
Infant
Male
Phenols - urine
Phenylketonurias - complications
Phenylketonurias - diagnosis
Phenylketonurias - therapy
Scleroderma, Systemic - complications
Scleroderma, Systemic - diagnosis
Scleroderma, Systemic - therapy
Scleroderma, Systemic - urine
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Summary:A diagnosis of scleroderma and phenylketonuria was made in an 18-month-old girl. This is the third recorded incidence of the association of these two disorders. Following institution of a low phenylalanine diet, there was softening of the severe sclerodermatous lesions on the trunk and lower extremities, although new lesions have slowly developed on the upper extremities. There has been no clinical or laboratory evidence of systemic scleroderma. Urinary chromatographic studies on 9 other children with scleroderma failed to reveal any distinctive abnormalities in the excretion of amino acids, phenols, indoles, or imidazoles.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:0022-3476
1097-6833
DOI:10.1016/S0022-3476(68)80272-0