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Phenylketonuria Learning Center
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Phenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine.
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Phenylketonuria (PKU) is a rare metabolic disorder caused by a deficiency in the production of the hepatic (liver) enzyme phenylalanine hydroxylase (PAH).
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Phenylketonuria (PKU) can be defined as a rare metabolic disorder caused by a deficiency in the production of the hepatic (liver) enzyme phenylalanine hydroxylase (PAH). PKU is the most serious form of a class of diseases referred to as "hyperphen...
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Phenylketonuria (fee-nyl-key-ton-uria), or PKU, is an inherited metabolic disease that results in severe developmental delay and neurological problems when treatment is not started very early and maintained throughout life. The disease is caused b...
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Phenylketonuria (PKU) can be defined as a rare metabolic disorder caused by a deficiency in the production of the hepatic (liver) enzyme phenylalanine hydroxylase (PAH). PKU is the most serious form of a class of diseases referred to as "hyperphen...
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An inherited metabolic disease caused by a defect in the liver enzyme that prevents the conversion of the protein called phenylalanine into a useful form. In phenylketonuria (PKU), a defect in the liver enzyme prevents the conversion of the protei...
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Phenylketonuria (PKU) is a rare, inherited, metabolic disorder that can result in mental retardation and other neurological problems. People with this disease have difficulty breaking down and using (metabolizing) the amino acid phenylalanine. PKU...
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Phenylketonuria (PKU) is an autosomal recessive disorder that results from phenylalanine hydroxylase (PAH) deficiency. If uncontrolled, PKU leads to mental retardation. The prevalence is approximately 1 in 10,000 in temperate climates and varies b...
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