Phenylketonuria is carefully misdiagnosed, and any abnormalities must be treated immediately.

Phenylketonuria is carefully misdiagnosed, and any abnormalities must be treated immediately.

Phenylketonuria can be screened for during pregnancy pku treatment and is included in the list of prenatal tests that girls must undergo during pregnancy.

Phenylalanine is used in the body to synthesize proteins and as a raw material for thyroid hormone and adrenaline. Many people with phenylketonuria have growth retardation if they are not treated in a timely manner.

Generally speaking, people with phenylketonuria have a lower IQ than normal people, and at four to nine months of age, the IQ differs significantly from that of normal infants.

If Phenylketonuria is severe, the person may even have a language development disorder, which may indicate a problem with the child's brain development.

Phenylketonuria patients also have a developing central nervous system. Due to brain atrophy and brain dysfunction, patients usually have recurrent convulsive seizures.

As the child grows older, the convulsions diminish. Many patients also have increased muscle tone and very active reflexes in various areas, often with abnormal behavior such as hyperactivity or excitement.

Most people with phenylketonuria have very dry skin and are prone to eczema, which can easily lead to scratches if the skin is slightly scratched.

People with phenylketonuria have an inhibition of the enzyme tyrosinase, which leads to the breakdown of melanin synthesis in the body, in many cases causing their hair to turn light brown.

Patients with phenylketonuria do not appear to have any of the early abnormalities. This often leads to systemic illnesses being misdiagnosed.

The younger the age of treatment, the better the results.


Related Hot Topic

Can PKU infants consume breast milk?

Breast milk supplemented with Phe-free formula has become a tolerable dietary treatment for newborns with PKU since the early 1980s, when it was discovered that breast milk only contained a low proportion of Phe. In PKU patients nowadays, breastfeeding is accepted and encouraged.

How is PKU treated? What is PKU?

Treatment for phenylketonuria PKU has no known cure. The most crucial form of treatment is a diet low in phenylalanine-containing foods. Thus, a low-protein diet is required. When a newborn is diagnosed with the condition, special infant formula must be used.

What initiates PKU?

PKU is brought on by mutations in the gene that contributes to the production of an enzyme known as phenylalanine hydroxylase, or PAH (pronounced fen-l-AL-uh-neen hy-DROK-suh-leys). The body requires this enzyme to convert the amino acid phenylalanine into other compounds.

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