Tyrosinemia without liver or renal damage with plantar and palmar keratosis and keratitis (hypertyrosinemia type II).

Authors :: Pelet B
Antener I
Faggioni R
Spahr A
Gautier E
Source :: Helvetica paediatrica acta [Helv Paediatr Acta] 1979 May; Vol. 34 (2), pp. 177-83.
Publication Year :: 1979
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.

Subjects :: Amino Acid Metabolism, Inborn Errors diet therapy
Amino Acids blood
Child, Preschool
Humans
Hydroxy Acids urine
Infant
Intellectual Disability blood
Keratoderma, Palmoplantar diet therapy
Keratoderma, Palmoplantar etiology
Male
Syndrome
Amino Acid Metabolism, Inborn Errors complications
Keratitis blood
Keratitis diet therapy
Tyrosine blood

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