Hyperphenylalaninemia due to dehydratase deficiency
Overview
A rare metabolic disorder where the deficiency of an enzyme (pterin-4-alpha-carbinolamine dehydratase) can caused high blood phenylalanine levels. The condition is generally harmless and the disorder is usually only discovered accidentally in routine blood tests.
Symptoms
- Reduced muscle tone - High blood phenylalanine level - Delayed psychomotor skills - High blood phenylalanine level
Treatment
Limited phenylalanine consumption in diet