Phenylketonuria Videos, Biography, Lyrics


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Phenylketonuria Biography

| ICD9 = | ICDO = | OMIM = 261600 | MedlinePlus = 001166 | eMedicineSubj = ped | eMedicineTopic = 1787 | eMedicine_mult = | MeshID = D010661 | }}Phenylketonuria (PKU) is an autosomal recessive genetic disorder characterized by a deficiency in the enzyme phenylalanine hydroxylase (PAH). This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine. When PAH is deficient, phenylalanine accumulates and is converted into phenylketones, which are detected in the urine.Left untreated, this condition can cause problems with brain development, leading to progressive mental retardation and seizures. However, PKU is one of the few genetic diseases that can be controlled by diet. A diet low in phenylalanine and high in tyrosine can bring about a nearly total cure. History Phenylketonuria was discovered by the Norwegian physician Asbjørn Følling in 1934 when he noticed that hyperphenylalaninemia (HPA) was

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