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

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.

• Authors: B Pelet, I Antener, R Faggioni, A Spahr, E Gautier
• Journal: Helvetica paediatrica acta (Helv Paediatr Acta) Vol. 34 Issue 2 Pg. 177-83 (May 1979) ISSN: 0018-022X [Print] Switzerland
• PMID: 156708 (Publication Type: Case Reports, Journal Article)

Chemical References

• Amino Acids
• Hydroxy Acids
• Tyrosine

Topics

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