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Home  List of Disease  Phenylketonuria

Disease Name:Phenylketonuria
Alternate Names:-
Virus Name:Phenylketonuria is an inborn error of metabolism caused by change of the phenylalanine hydroxylase gene, PAH
Treatment:If PKU is diagnosed early on enough, an affect newborn can grow up with usual brain development, but only by managing and controlling phenylalanine (Phe) stage through diet, or a combination of diet and medication. When phenylalanine cannot be metabolized by the body, unusually high levels accumulate in the blood and are toxic to the brain. When left untreated, complications of PKU include harsh mental retardation, brain function abnormalities, microcephaly, mood disorders, irregular motor functioning, and behavioral troubles such as ADHD.
Description:Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder typify by a deficiency in the hepatic enzyme phenylalanine hydroxylase (PAH). This enzyme is essential to metabolize the amino acid phenylalanine to the amino acid tyrosine. When PAH deficient, phenylalanine is accumulate and is converted into phenylpyruvate, which is sense in the urine.

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