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Outcome in tyrosinaemia type II
Archives of Disease in Childhood
|October 1, 1991
Summary
Tyrosinaemia type II, a genetic disorder, can be successfully managed with early dietary intervention. This approach leads to excellent long-term outcomes, preventing severe health complications in affected children.
Area of Science:
- Metabolic disorders
- Genetics
- Pediatric medicine
Background:
- Tyrosinaemia type II (OMIM 276700) is an autosomal recessive metabolic disorder.
- It is caused by a deficiency in the enzyme tyrosine aminotransferase (TAT).
- Clinical manifestations include oculocutaneous symptoms, hyperkeratosis, intellectual disability, and self-mutilation.
Observation:
- A boy diagnosed with tyrosinaemia type II presented with failure to thrive.
- His sister was diagnosed via neonatal screening.
- Both siblings were managed with a specialized diet.
Findings:
- The siblings showed excellent outcomes at ages 12 and 10 years, respectively.
- Key improvements were observed in oculocutaneous sequelae, growth, and psychomotor development.
- This contrasts with the generally unfavorable prognosis reported in untreated or poorly managed cases.
Implications:
- Early diagnosis and dietary management are crucial for favorable outcomes in tyrosinaemia type II.
- Neonatal screening plays a vital role in identifying affected individuals early.
- This case highlights the potential for successful long-term management and prevention of severe sequelae.