1、Growth and developmental changes

In addition to the delayed growth and development of the body, the patient has delayed intellectual development, pku guidelines especially for language development disorder is more obvious.

If not effectively controlled and treated in a timely manner, it will bring great impact and damage to the patient's central nervous network, and will even continue to become severe or moderate mental abnormalities

2、Skin and hair abnormalities

The skin is usually dry and white, with eczema and skin scratches, as well as light brown hair.

3, abnormal body odor

Phenylalanine from another important pathway, then can produce phenyl lactic acid and phenylacetic acid, and from sweat and urine excretion, the patient will feel a rat urine odor.

4. Neurological manifestations

This is the main damage of phenylketonuria, which takes precedence over intellectual development and is accompanied by abnormal neurological behavior, such as excitement, hyperactivity, drowsiness, depression, seizure symptoms.

A small number of patients show increased muscle tension, tendon radiation, 80% of patients show abnormal EEG symptoms, black hole lack of neurological symptoms earlier and more severe, often found in the muscle tension significantly reduced, drowsiness, convulsions.

If not treated in time, death can occur in early childhood.