Tyrosinemia without liver or renal damage with plantar and palmar keratosis and keratitis (hypertyrosinemia type II).
Détails
ID Serval
serval:BIB_13859
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Tyrosinemia without liver or renal damage with plantar and palmar keratosis and keratitis (hypertyrosinemia type II).
Périodique
Helvetica paediatrica acta
ISSN
0018-022X (Print)
ISSN-L
0018-022X
Statut éditorial
Publié
Date de publication
05/1979
Peer-reviewed
Oui
Volume
34
Numéro
2
Pages
177-183
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article
Publication Status: ppublish
Publication Status: ppublish
Résumé
A boy of 3 2/12 years of age with Richner-Hanhart syndrome (plantar and palmar keratosis and chronic keratitis) was found to have hypertyrosinemia and to excrete the hydroxyacids derived from tyrosine. A diet poor in phenylalanine and tyrosine cured the skin and corneal lesions. Clinical and biochemical observations are reported.
Mots-clé
Amino Acid Metabolism, Inborn Errors/complications, Amino Acid Metabolism, Inborn Errors/diet therapy, Amino Acids/blood, Child, Preschool, Humans, Hydroxy Acids/urine, Infant, Intellectual Disability/blood, Keratitis/blood, Keratitis/diet therapy, Keratoderma, Palmoplantar/diet therapy, Keratoderma, Palmoplantar/etiology, Male, Syndrome, Tyrosine/blood
Pubmed
Web of science
Création de la notice
19/11/2007 13:05
Dernière modification de la notice
14/04/2023 9:28
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