What is phenylketonuria
Phenylketonuria (PKU) is a rare genetic condition caused by the buildup of the amino acid phenylalanine. Amino acids are the building blocks of protein in the body. Phenylalanine is an “essential” amino acid, meaning it is only obtained through the diet. For an individual to inherit PKU, they must inherit a genetic defect from both parents that carries instructions for making the enzyme (phenylalanine hydroxylase) that breaks down phenylalanine. The enzyme may work less than normal or not at all. In PKU, the excess phenylalanine accumulates in the blood and is toxic to the brain. Infants with PKU may not present with symptoms initially, but without treatment could experience severe intellectual disability, seizures, and additional neurologic problems. The goals of treatment in PKU are to enhance enzyme activity and control dietary intake of phenylalanine with a low-phenylalanine diet to prevent the accumulation of phenylalanine.
How common is phenylketonuria
Phenylketonuria affects approximately 1 in every 10,000 newborns in the United States (about 20,000 individuals)1. As a result of newborn screening in all 50 states, PKU cases can be detected shortly after birth and promptly treated to minimize the risk of complications.1
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1. Genetics home reference. (2012) NIH/NLM. Phenylketonuria. http://ghr.nlm.nih.gov/condition/phenylketonuria Accessed 07 January 2015
What are the symptoms of phenylketonuria
Signs and symptoms of phenylketonuria include, but are not limited to, the following:
- Intellectual disability (if un-treated, or not treated consistently)
- Lighter skin, hair, and eyes than siblings without disease
- Jerking movements of the arms or legs
- Smaller than normal head size
- Red skin rash with small pimples
- Body odor caused by build-up of phenylacetic acid in the urine or sweat
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