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Phenylketonuria
Alternate Names : PKU
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Phenylketonuria Diagnosis & Tests
Tests include:
- Enzyme assay to detect the carrier state (parents)
- Chorionic villus sample to detect fetal PKU (prenatal diagnosis)
- PKU screening (a heelstick blood sample from the infant to screen for PKU, mandatory in most states)
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Jump to another section
• Definition
• Phenylketonuria Overview, Causes, & Risk Factors
• Phenylketonuria Symptoms & Signs
• Phenylketonuria Prevention
• Phenylketonuria Diagnosis & Tests
• Phenylketonuria Treatment
• Phenylketonuria Prognosis
• Phenylketonuria Complications
• Calling Your Health Care Provider
• Pictures & Images
Topics that might be of interest to you Diseases & Conditions
• Eczema (Atopic Dermatitis)
• Mental Retardation
• Tremor
Tests & Exams
• Capillary Sample
• ELISA
• Serum Phenylalanine Screening
Other Topics
• Amino Acids
• Central Nervous System
• Enzyme
• Hyperactivity
• Melanin
• Movement - Uncontrolled or Slow
• Protein in Diet
• Rashes
• Seizures
• Spasticity
Review Date : 7/30/2002
Reviewed By : Jonathan Fanaroff, M.D., Department of Pediatrics, Rainbow Babies and Children's Hospital, Case Western Reserve University, Cleveland, OH. Review provided by VeriMed Healthcare Network.
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