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Related Experiment Videos

[Late onset type I tyrosinemia]

V Klujber1, A Sallai, R Kálmánchey

  • 1Semmelweis Orvostudományi Egyetem, Budapest, II. Gyermekklinika.

Orvosi Hetilap
|July 13, 1997
PubMed
Summary
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This case study details a 3-year-old with tyrosinemia type 1, presenting with colic, encephalopathy, and liver cirrhosis. Treatment with the enzyme blocker NTBC was initiated, highlighting a new therapeutic approach for this rare genetic disorder.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatric Medicine

Background:

  • Tyrosinemia type 1 is a rare inherited metabolic disorder.
  • It results from a deficiency in fumarylacetoacetate hydrolase (FAH).
  • This leads to the accumulation of toxic metabolites, causing liver and kidney damage.

Observation:

  • A 3-year-old girl presented with severe symptoms including colic, obstipation, acute encephalopathy, hypertension, and hyponatremia.
  • Liver biopsy confirmed cirrhosis due to elevated gammaGT and alfa-fetoprotein.
  • Kidney function tests were initially normal, with a single observation of increased calcium turnover.

Findings:

  • The patient was diagnosed with tyrosinemia type 1.
  • Treatment with the novel enzyme blocker NTBC was initiated.

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  • The case highlights the clinical presentation and management challenges of this condition.

    • Implications:

    • NTBC represents a promising therapeutic strategy for tyrosinemia type 1.
    • Early diagnosis and intervention are crucial for improving patient outcomes.
    • This case contributes to understanding the pathomechanism and treatment of tyrosinemia type 1.