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Current status and development of the treatment of phenylketonuria

Current status and development of the treatment of phenylketonuria

Pah is a congenital metabolic disorder that causes elevated levels of l- phenylalanine in the blood. pku treatment Phenylalanine levels above 1200 liters in the blood are typically called phenylketonuria and can lead to severe mental retardation without treatment.

Pregnant women with phenylalanine levels above the therapeutic range will have adverse fetal effects.

Lowering plasma phenylalanine levels can prevent mental retardation by maintaining them within the therapeutic range of 120-360 molu002FL, which has a good prognosis for patients and their pregnancies.

The phenotype of the patients showed a continuous spectrum from mild hyperphenylalaninemia to mild PKU, moderate PKU and severe use of classical PKU.

There was a good correlation between biochemical phenotypes and patients undergoing genotypic data. In the last four decades, the only available therapeutic study was a strict requirement to restrict low phenylalanine through the diet.

This changed after approval in 2007, and the therapy is effective in up to 55% of patients, depending on the population. Cofactor therapy is usually more effective in patients with mild disease and less effective in patients with conventional PKU.

A new treatment has just been approved that is effective in all patients with PAH deficiency, regardless of their degree of enzyme deficiency or phenotypic severity.

The main treatments for hyperphenylalaninemia are coenzyme cofactor therapy and, more recently, enzyme replacement therapy, which is commonly used.