Phenylketonuria (PKU) is a chromosomal recessive genetic disorder where, due to a phenylalanine metabolism disorder, large amounts of phenylpyruvate and other metabolic products are excreted in the urine.

Phenylketonuria (PKU) is a congenital amino acid metabolism disorder, a common chromosomal recessive disease, primarily affecting newborns. The condition leads to elevated levels of phenylalanine in the body, which can cause damage to the nervous system. Without treatment, this disease may lead to severe intellectual disabilities and other health issues. Therefore, early diagnosis and treatment are crucial for preventing these consequences.

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

Sertoli cell hypoplasia, also known as Klinefelter’s syndrome, is a genetic disorder caused by chromosomal abnormalities, often leading to underdeveloped testes, sexual dysfunction, and infertility.

Phenylketonuria is a chromosomal recessive inherited disease, with normal values for newborns being less than 20mg/dl.

Phenylketonuria is a genetic disorder characterized by abnormal levels of phenylalanine.

What is the normal value for phenylketonuria?

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