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In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
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Type 1 Tyrosinaemia.

M A Mannion1, A Smith1, P Mayne1

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Summary
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Tyrosinaemia type 1 (TYR1) is a rare genetic disorder affecting the liver. Early diagnosis via succinylacetone detection and prompt Nitisinone (NTBC) treatment are crucial for managing TYR1 complications and preventing liver transplants.

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Tyrosinaemia type 1 (TYR1) is an autosomal recessive metabolic disorder caused by fumarylacetoacetase (FAH) deficiency.
  • This enzyme defect leads to toxic metabolite accumulation, causing severe liver and kidney damage.

Observation:

  • Three cases of TYR1 were diagnosed in Ireland over nine years, representing the only known cases since 1989.
  • Hypoglycaemia was a common initial symptom across all presented cases.
  • Diagnosis was confirmed by identifying succinylacetone, a pathognomonic biomarker, in urine organic acid analysis.

Findings:

  • The study details the clinical, biochemical, and genetic findings of these three TYR1 patients.
  • One novel mutation associated with TYR1 was identified in this cohort.
  • Succinylacetone analysis proved effective for diagnosing TYR1 in the Irish population.

Implications:

  • Early initiation of Nitisinone (NTBC) therapy significantly reduces TYR1 complications.
  • Timely NTBC treatment decreases the incidence of liver transplantation in TYR1 patients.
  • This case series underscores the importance of awareness and diagnostic protocols for rare diseases like TYR1 in specific populations.