Main nursing issues for phenylketonuria

Do you know the main nursing issues of phenylketonuria? Many people don't know what the symptoms are for this disease, but if the child's urine has a strong odor, it may be this disease. But how to take care of it during treatment? Let's take a look at the main nursing issues of phenylketonuria!

Nursing care for patients with phenylketonuria:

1. Children with other complications should be given symptomatic treatment. For example, children with epileptic seizures should start regular anti-epileptic drug treatment as soon as possible. Children with eczema can heal themselves after the blood Phe concentration is satisfactorily controlled. If the eczema is severe, topical medications can be given for symptomatic treatment.

2. Intellectual disability caused by brain injury is irreversible, but it can be improved to varying degrees through intellectual rehabilitation, and some may even make significant progress. Families with conditions that permit can consider intellectual rehabilitation training for children. For children with severe intellectual disability, the purpose of training is to cultivate basic self-care ability, while for children with mild to moderate intellectual disability, appropriate survival skills training should be carried out on the basis of cultivating their life ability.

3. Early detection and early treatment of PKU children have the best effect. Some can fully reach the intelligence level of normal people, but do not give up any child who can be treated. In the past, textbooks have stated that children over 6 months old do not need to be treated. Our experience shows that children of any age can improve their intelligence to varying degrees after treatment and can take care of themselves.

4. Children with suspected illnesses in the outpatient clinic should also be screened, diagnosed, and given treatment to reduce the number of intellectually disabled people.

What are the dangers of phenylketonuria?

1. Growth retardation

In addition to physical growth retardation, the main manifestation is intellectual retardation, which is manifested by lower IQ than normal children of the same age, which can appear 4 to 9 months after birth. In severe cases, the IQ is lower than 50, and language development disorders are particularly obvious. These manifestations indicate brain development disorders.

2. Neuropsychiatric manifestations

Due to brain atrophy, there is cerebellar malformation, recurrent convulsions, but they are relieved with age. The muscle tone is increased, and the reflexes are hyperactive. There is often excitement, hyperactivity and abnormal behavior.

3. Skin and hair manifestations

The skin is often dry and prone to eczema and skin scratches. Due to the inhibition of tyrosinase, the synthesis of melanin is reduced, so the hair color of the children is light brown.

4. Others

Due to the deficiency of phenylalanine hydroxylase, phenylalanine produces increased phenyllactic acid and phenylacetic acid from another pathway, which are excreted in sweat and urine and have a musty odor (or mouse odor).