pku handbook

What is this disease, phenylketonuria?

Phenylketonuria (PKU) is a rare disorder of amino pku handbook acid metabolism caused by phenylalanine metabolism.

Due to the mutation of the phenylalanine hydroxylase (PAH) gene, the enzyme activity can be reduced or lacked, so that phenylalanine cannot develop into a tyrosine, causing blood phenylalanine (phenylalanine, Phe) concentration levels increased. When the concentration of Phe in the brain is significantly increased, the concentration of Phe in the brain is significantly increased, and the synthesis methods of the neurotransmitters dopamine and serotonin are reduced, resulting in poor development of brain myelination or demyelination and other white matter lesions, resulting in Some patients develop dysfunction using Smart Market. The increase of Phe stimulates transaminase, the bypass metabolism is enhanced, the content of phenylpyruvate, phenylacetic acid and phenyllactic acid is increased, and it is excreted from the urine for a long time.

What are the symptoms of Peking University children?

Most children are asymptomatic during the neonatal period, and gradually appear as follows after 3 to 4 months of birth:

"white" - light skin;

"Yellow " - the color of the hair and iris gradually changes from black to yellow or brown;

"Smelly" - urine and sweat contain a large amount of phenyllactic acid in China and have the odor of rat urine;

Mental retardation: mainly cognitive developmental impairment;

Nervous system manifestations: microcephaly, epileptic seizures (mostly seizure manifestations), etc.;

Vomiting and eczema are common in infancy.

If the newborn has not been screened for PKU in the early stage or there is no abnormality in the screening, but the above-mentioned obvious symptoms appear in the later stage of feeding, parents should pay enough attention and go to the medical institution for detection and diagnosis in time.

How to intervene and treat PKU?

A low-phenylalanine diet remains the mainstay of treatment for PKU. Children with PKU are treated within 2 months of birth and their intellectual development is almost normal.

PKU patients with blood Phe concentration greater than 360 μmol/L under normal protein intake should be treated immediately after the completion of the differential diagnosis test. The earlier the treatment, the better the life-long treatment.

Mild HPA may not be treated temporarily, but the blood Phe concentration needs to be checked regularly.

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