Definition
Phenylketonuria is a metabolic disease characterized by phenylalanine hydroxylase enzyme deficiency, accompanied by mental retardation and neurological disorders.
Symptoms
- Mental retardation
- Neurological disorder
- Hypopigmentation
- Eczematous rash
Reasons
PAH gene mutation.
Diagnosis
Newborn screening, genetic testing.
Treatment
Low phenylalanine diet.
Which Polyclinic Should You Apply To?
Metabolism Polyclinic
What to Do in an Emergency?
In case of metabolic crisis, emergency services should be consulted.
This page is for general information purposes only.