Phenylketonuria is a congenital metabolic disease that requires lifelong dietary control to prevent brain damage.

Pediatric phenylketonuria is a chromosomal recessive genetic disorder. Elevated levels of phenylalanine in the serum may lead to emotional instability in children, requiring medication and increased water intake to alleviate symptoms.

Phenylketonuria is a genetic disorder, and dietary control is the primary treatment method.

Milder Phenylketonuria is a genetic metabolic disorder caused by reduced activity of phenylalanine hydroxylase or a deficiency of its cofactor tetrahydrobiopterin.

Phenylketonuria is a common amino acid metabolism disorder caused by a deficiency in enzymes involved in the breakdown of phenylalanine, leading to the accumulation of phenylalanine and its ketones, and their excessive excretion in urine.

Phenylketonuria is an inherited metabolic disease characterized by a deficiency of the enzyme phenylalanine hydroxylase, leading to the excessive production of phenylpyruvate.

Phenylketonuria is a genetic disorder where the body cannot metabolize phenylalanine normally, leading to excessive accumulation and affecting brain development. If diagnosed and treated early before symptoms appear, most patients can achieve normal intellectual levels. However, if left untreated or treated late, most patients will experience intellectual, motor, and language developmental delays. Early treatment leads to better outcomes. Those treated within one month of birth are more likely to avoid intellectual impairments. Delayed treatment can result in more significant brain damage. Therefore, immediate treatment should be initiated upon confirmation of the diagnosis.

Phenylketonuria is a genetic metabolic disorder, with symptoms and causes including…

Screening results and treatment methods for neonatal phenylketonuria (PKU).

The normal range for phenylketonuria is between 0.06 to 0.18 mmol/L or 1 to 3 mg/dl.