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Phenylketonuria |
Classical Phenylketonuria; Deficiency Disease, Phenylalanine Hydroxylase; Folling Disease; Phenylalanine Hydroxylase Deficiency Disease |
Phenylketonuria [PKU] is a human genetic disorder (though it is possible to exist in mice), in which the body lacks phenylalanine hydroxylase, the enzyme necessary to metabolize phenylalanine to tyrosine. Left untreated, the disorder can cause brain damage and progressive mental retardation as a result of the accumulation of phenylalanine and its breakdown products. The incidence of occurrence of PKU is about 1 in 15,000 births, but the incidence varies widely in different human populations ...
Wikipedia - [full article]
Phenylketonuria Clinical Trials
- Study of Phenoptin in Subjects With Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006
ClinicalTrials.gov Identifier: NCT00332189 - Active, not recruiting
Phenylketonuria
- Response to Phenylketonuria to Tetrahydrobiopterin (BH4)
ClinicalTrials.gov Identifier: NCT00244218 - Recruiting
Phenylketonuria
- Low Phenylalanine Diet for Mothers with Phenylketonuria (PKU)
ClinicalTrials.gov Identifier: NCT00065299 - Completed
Phenylketonuria
- Study of a Phenylalanine Restricted Diet During Pregnancy to Prevent Symptoms in Offspring of Patients With Phenylketonuria
ClinicalTrials.gov Identifier: NCT00006142 - Completed
Phenylketonuria
- The Early History of Universal Screening for Metabolic Disorders
ClinicalTrials.gov Identifier: NCT00309400 - Active, not recruiting
Phenylketonuria; Galactosemia; Inborn Errors of Metabolism
- Study of BH4, a New and Simple Treatment of Mild PKU
ClinicalTrials.gov Identifier: NCT00260000 - Completed
Phenylketonuria
- Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin™ Treatment in Subjects with Phenylketonuria
ClinicalTrials.gov Identifier: NCT00104260 - Completed
Phenylketonurias
- Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects with Phenylketonuria who have Elevated Phenylalanine Levels
ClinicalTrials.gov Identifier: NCT00104247 - Completed
Phenylketonurias
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