Tyrosinemia without liver or renal damage with plantar and palmar keratosis and keratitis (hypertyrosinemia type II).
Details
Serval ID
serval:BIB_13859
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Tyrosinemia without liver or renal damage with plantar and palmar keratosis and keratitis (hypertyrosinemia type II).
Journal
Helvetica paediatrica acta
ISSN
0018-022X (Print)
ISSN-L
0018-022X
Publication state
Published
Issued date
05/1979
Peer-reviewed
Oui
Volume
34
Number
2
Pages
177-183
Language
english
Notes
Publication types: Case Reports ; Journal Article
Publication Status: ppublish
Publication Status: ppublish
Abstract
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.
Keywords
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
Create date
19/11/2007 12:05
Last modification date
14/04/2023 8:28
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