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Phenylketonuria needs to be diagnosed as early as possible and the younger the age, the better the prognosis

Phenylketonuria needs to be diagnosed as early as possible and the younger the age, the better the prognosis

(I) Treatment cycle

Phenylketonuria cannot be completely cured, pku guidelines it is a lifelong disease and requires lifelong treatment.

(B) Drug treatment

1、Tetrahydrobiopterin

This is a coenzyme of phenylalanine hydrogenase, which acts as an information carrier in the enzymatic reaction and acts as a reductant.

This method not only increases the patient's tolerance to phenylalanine, but also effectively reduces the impact on the patient's compliance with dietary therapy and improves the patient's quality of life.

2. 5-Hydroxytryptamine

This is also known as serotonin and is mainly used in phenylketonuria to maintain normal brain and neuromuscular function, but the dose increases slowly in small doses.

3、L-dopa

It enters the central nervous system through the blood-brain barrier and is converted to dopamine through the action of dopa decarboxylase to perform its role as a drug.

It is mainly used in tetrahydrobiopterin-deficient phenylketonuria.

The goal of care for phenylketonuria is to promote the intellectual, physical, and mental development of the patient, thereby preventing complications, and also to avoid infections, or infections that would detect and manage the disease well.

Phenylketonuria is an autosomal recessive genetic disorder for which there is no particularly effective prevention or treatment, but the development of good lifestyle habits can prevent the disease.

Once the disease is detected, timely intervention and treatment are needed.