Conditions listing Phenylketonuria as a symptom may also be potential underlying causes of Phenylketonuria. Our database lists the following as having Phenylketonuria as a symptom of that condition:
As with all medical conditions, there may be many causal factors. Further relevant information on causes of Phenylketonuria may be found in:
16 MEDICAL BOOKS ONLINE! Review excerpts from medical books online, free, without registration, for more information about the causes of Phenylketonuria.
PKU is transmitted by an autosomal recessive gene on chromosome 12. Patients with this disorder have insufficient hepatic phenylalanine hydroxylase, an enzyme that acts as a catalyst in the conversion of phenylalanine to tyrosine. As a result, phenylalanine and its metabolites accumulate in the blood, eventually causing mental retardation if left untreated. The exact biochemical mechanism that causes this retardation is unclear.
In the United States, this disorder occurs in 1 in approximately 14,000 births. (About 1 person in 60 is an asymptomatic carrier.) The gene is most common in Ireland, Scotland, Belgium, and West Germany and rare in Blacks, Asians, Native Americans, Finns, and Ashkenazi Jews.
Source: Professional Guide to Diseases (Eighth Edition), 2005
PKU is transmitted by an autosomal recessive gene. Patients with this disorder have insufficient hepatic phenylalanine hydroxylase, an enzyme that acts as a catalyst in the conversion of phenylalanine to tyrosine. As a result, phenylalanine and its metabolites accumulate in the blood, eventually causing mental retardation if left untreated. The exact biochemical mechanism that causes this retardation is unclear.
Source: Handbook of Diseases, 2003
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