Hyperphenylalaninemia with primapterinuria

Overview

A rare disorder characterized by high blood phenylalanine levels and excretion of primapterine in the urine due to an enzyme deficiency (pterin-4-alpha-carbinolamine dehydratase). The condition usually produces no clinical symptoms.

Symptoms

* Transient hyperphenylalaninemia * Primapterinuria * Asymptomatic

Causes

* 2-methylbutyryl * 3 alpha methylcrotonyl * 3 alpha methylcrotonyl * 3-methylcrotonyl asymptomatic * 47,XXX syndrome