Hyperphenilalaninemia due to pterin-4-alpha-carbin

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

The list of treatments mentioned in various sources for Hyperphenilalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency includes the following list. Always seek professional medical advice about any treatment or change in treatment plans. * Limited phenylalanine consumption in diet