Definition:
Phenylketonuria is a genetic disorder (autosomal recessive) which is due to a deficient phenylalanine hydroxylase, which is essential in metabolizing phenylalanine to tyrosine.
Diagnosis:
Diagnosis of the disease phenylketonuria is often first done through the new born screening of the baby 24 hours or 48 hours after birth.
Treatment:
Treatment for phenylketunuria requires restricting the patient from eating foods that are high in phenylalanine like breast milk, chicken, nuts, meat, legumes, fish, cheese and other products made from milk. Eating of foods that are starchy are also monitored like potatoes, pasta, bread, and corn. Instead of breast milk, babies are given supplementary formulas that help provide the deficient amino acids and other nutrients not absent in a protein free diet. Oral medications such as tetrahydrobiopterin will help reduce blood levels of the acids some patients. There are, however, many other forms of therapies which are still under study like gene therapy. The diet should be followed throughout the patient's life.
Symptoms and Signs:
Symptoms of phenylketonuria include seizures, hair and skin which are excessively fair, and the baby's sweat and urine having a musty odor in it.
Causes:
In the past years, phenylketonuria is caused by a defective gene responsible for the enzyme phenylalanine hydroxylase that converts phenylalanine to tyrosine.
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