Phenylketonuria, what kind of disease is this?
Phenylketonuria (PKU) is a common rare disease with abnormal maternal pku amino acid metabolism, which is caused by the metabolism of phenylalanine.
Due to the mutation of phenylalanine hydroxylase (PAH) gene, the enzyme activity decreased or lacked, phenylalanine could not be transformed into tyrosine, and the blood phenylalanine concentration increased. The increase of blood Phe passes through the blood-brain barrier, the increase of Phe concentration in the brain and the decrease of the synthesis of neurotransmitters dopamine and serotonin, resulting in brain white matter diseases, such as myelin dysplasia or demyelination. Lead to mental retardation. High Phe stimulates transaminase, enhances bypass metabolism, increases the production of Phenylpyruvate, phenylacetic acid and phenyllactic acid, and excretes a large amount from urine.
What are the symptoms of Peking University?
Most children have no major clinical symptoms in the neonatal period and begin to develop gradually after 3 ~ 4 months of birth:
"White" - light skin;
"Yellow" - the color of hair and iris gradually changes from black to yellow or brownish yellow;
"Odor" - urine and sweat contain a large amount of phenyllactic acid level in China and have the odor of rat urine;
Mental retardation: mainly cognitive retardation;
Neurological manifestations: microcephaly, seizures (> spasms), etc;
Vomiting and eczema often occur in infancy.
If the newborn is not screened for PKU in the early stage or there is no abnormality in the screening, but the above obvious symptoms appear in the later stage of nursing, parents should pay enough attention to it and go to medical institutions for detection and diagnosis in time.
How does PKU intervene and treat?
Low Phe diet is still the main treatment of PKU. Children with PKU are treated within 2 months after birth, and their intellectual development can be close to normal.
For normal protein intake, the blood Phe concentration is greater than 360 μ Mol / L PKU patients should be treated immediately after the end of the differential diagnosis test. The earlier the treatment, the better the lifelong treatment.
Mild HPA may not be treated temporarily, but the blood Phe concentration needs to be tested regularly. If the blood phenylalanine concentration lasts twice ≥ 360 μ Mol u002fl, treatment should be performed.
