Common home care for patients with phenylketonuria

Do you know the common home care for patients with phenylketonuria? After the disease is discovered, it must not only be treated in time, but also be well cared for. Many people relapse repeatedly because they don't know how to care for themselves. Let's learn about the common home care for patients with phenylketonuria!

Phenylketonuria (PKU) is a common amino acid metabolism disease. It is caused by enzyme defects in the phenylalanine (PA) metabolic pathway, which prevents phenylalanine from being converted into tyrosine, resulting in the accumulation of phenylalanine and its keto acid, which are excreted in large quantities from the urine. This disease is relatively common among hereditary amino acid metabolism deficiency diseases, and its inheritance is autosomal recessive. The clinical manifestations are uneven, and the main clinical features are mental retardation, neuropsychiatric symptoms, eczema, skin scratch signs, depigmentation and mouse odor, and abnormal electroencephalogram. If early diagnosis and early treatment are available, the aforementioned clinical manifestations may not occur, intelligence will be normal, and abnormal electroencephalograms can also be restored.

Home care for people 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.