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

Helv Paediatr Acta. 1979 May;34(2):177-83.

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.

Publication types

  • Case Reports

MeSH terms

  • 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*

Substances

  • Amino Acids
  • Hydroxy Acids
  • Tyrosine