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[Palmoplantar keratosis associated with keratitis: hereditary hypertyrosinemia treated by diet]
Insights
Hypertyrosinaemia type II, a genetic disorder causing skin and eye issues, requires early diagnosis. A specialized diet significantly improves symptoms, but prompt intervention is key to preventing lasting ocular complications.
Area of Science:
- Biochemistry
- Genetics
- Ophthalmology
Background:
- Hypertyrosinaemia type II (HTII) is a rare autosomal recessive metabolic disorder.
- Characterized by elevated tyrosine levels in blood and urine, leading to distinct clinical manifestations.
Observation:
- Two unrelated pediatric patients, aged 5 and 16, presented with HTII.
- Clinical features included severe palmo-plantar hyperkeratosis and herpetiform keratitis.
Findings:
- Diagnosis confirmed by hypertyrosinaemia, hypertyrosyluria, and confirmed cytoplasmic tyrosine amino-transferase deficiency via biopsy.
- A therapeutic low-phenylalanine and low-tyrosine diet resulted in remarkable clinical improvement.
Implications:
- Early diagnosis and dietary intervention are crucial for managing HTII.
- Timely treatment can prevent or mitigate severe ocular complications, preserving vision.
Abstract:
The authors report the cases of two unrelated children 16 and 5 years of age respectively, affected with hypertyrosinaemia type II. This condition is characterized by palmo-plantar hyperkeratosis associated with a herpetiform keratitis. The diagnosis is based on the finding of hypertyrosinaemia and hypertyrosyluria, and may be confirmed by their biopsy findings of a cytoplasmic tyrosine amino-transferase deficiency. It is a hereditary autosomal recessive disease. A low phenylalanine and tyrosine diet produced a spectacular improvement but the ocular complications could have been avoided by an earlier diagnosis.