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Two siblings with tyrosinaemia type 2.

Omer Faruk Aydin1, Pelin Zorlu, Benal Kunak

  • 1Dr. Sami Ulus Children's Hospital, 06530 Ankara, Turkey. ofaydin@yahoo.com

European Journal of Pediatrics
|January 28, 2003
PubMed
Summary

Tyrosinaemia type 2, a genetic disorder, can cause painful skin and eye issues. Early diagnosis and a low-tyrosine diet effectively treat these symptoms in affected children.

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Area of Science:

  • Medical Genetics
  • Dermatology
  • Ophthalmology

Background:

  • Tyrosinaemia type 2 (oculocutaneous tyrosinemia) is a rare autosomal recessive metabolic disorder.
  • It results from a deficiency in the enzyme tyrosine aminotransferase (TAT), leading to elevated tyrosine levels.
  • This elevation causes characteristic clinical manifestations.

Observation:

  • Two siblings, a 6-year-old girl and a 3.5-year-old boy, presented with painful palmar-plantar hyperkeratosis.
  • The boy also exhibited conjunctival injection, photophobia, lacrimation, and conjunctivitis.
  • Elevated blood tyrosine levels were confirmed in both patients (150.6 and 202.3 micro mol/dl).

Findings:

  • A dietary intervention consisting of low protein, low phenylalanine, and low tyrosine intake was initiated.
  • After one month, blood tyrosine levels significantly decreased (to 37.7 and 65.6 micro mol/dl).
  • Both patients showed marked improvement in cutaneous lesions, and conjunctivitis resolved.

Implications:

  • The study highlights the importance of recognizing the triad of bilateral ulcero-conjunctivitis, photophobia, and palmar-plantar hyperkeratosis for early diagnosis of tyrosinaemia type 2.
  • Dietary management is effective in ameliorating the clinical symptoms of tyrosinaemia type 2.
  • Prompt diagnosis and treatment can prevent long-term complications associated with hypertyrosinemia.

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