Children with phenylketonuria should control their diet and develop a reasonable medication plan!

1. Dietary control

In order to develop a reasonable diet plan, plasma phenylalanine levels need to be measured frequently; metabolic diseases list the recommended target is 2mg/dL~4mg/dL (120-240μmol/L) for children aged 12 years<.

The recommended target for children aged 12 years > is 2mg/dL~10mg/dL (120-600μmol/L). Dietary planning and management requires that women of childbearing age begin eating before pregnancy to ensure better outcomes for their children.

2. Medication

Tyrosine supplements are increasingly being used because they are an essential amino acid for PKU patients. In addition, sapropterin is increasingly being used.

For children with tetrahydrobiopterin deficiency, oral administration of tetrahydrobiopterin 1-5mg/kg 3 times/day, levodopa, carbidopa, 5-OH tryptophan, and tetrahydrofolate 10-20mg/day once can prevent and treat dihydropterin reductase deficiency with the same treatment purpose and method as PKU.

2. Prognosis of phenylketonuria

Treatment starting after the age of 2 to 3 years may be effective not only for the extreme hyperactivity and intractable convulsions of the internal control system.

Mothers with phenylketonuria who require poor control during pregnancy are at increased risk for microcephaly and physical developmental defects in their children.

Phenylketonuria, a rare congenital metabolic disorder, can have a significant impact on the child, causing head malformations, abnormal neurodevelopment of the brain, and physical developmental defects.

It is important for pregnant women to have regular medical checkups during pregnancy to observe the growth and development of the fetus. If you have familial phenylketonuria, you should also make a medication plan during pregnancy.

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