Definition:
Phenylketonuria or PKU is a birth defect; more specifically, a mutation of the gene causing to produce the enzyme needed to break down the amino acid phenylalanine. People with this disease are generally advised to limit food with high-protein like cheese, meats and nuts.
Diagnosis:
Newborn screening may be done to test for PKU. Blood tests are done to check the baby's phenylalanine level and certain metabolic disorders. In some cases, genetic testing will be undergone to identify genetic mutations.
Treatment:
A strict diet with limited phenylalanine may be imposed. The safe amount of phenylalanine varies per person. The doctor will determine the safe amounts through diet records, growth charts and blood levels of phenylalanine. A recently approved medication for PKU is also available for some people. This drug is to supplement the PKU diet.
Symptoms and Signs:
Newborns have no symptoms, but may develop over time. The symptoms include: mental retardation, behavioral or social problems, seizure or tremors, hyperactivity, stunted growth, skin rashes, small head, vomiting, musty odor in the person's breath, skin or urine, fair skin and blue eyes due to the phenylalanine's inability to transform melanine.
Causes:
Phenylketonuria is attributed to mutations or internal defects of a gene primarily needed to produce the enzyme to break down the amino acid phenylalanine.
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