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Outcome in tyrosinaemia type II
Archives of Disease in Childhood
|October 1, 1991
Insights
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.
Abstract:
Tyrosinaemia type II was diagnosed in a boy with failure to thrive and in his sister on neonatal screening. On diet the outcome, at 12 and 10 years respectively, has been excellent in respect of oculocutaneous sequelae, growth, and psychomotor development, contrasting with the generally unfavourable outcome in most reported cases.