What is Phenylketonuria?

Phenylketonuria (PKU) is a rare inherited metabolic disease that causes the patient not to be able to metabolize an amino acid called phenylalanine. Patients with PKU have an enzyme deficiency, namely phenylalanine hydroxylase which prevent the breaking of phenylalanine into tyrosine.This leads to phenylalanine being build up in the blood and brain, causing brain damage and intellectual disability.

BH4 deficiency, a cofactor required in the metabolism of some amino acids, i.e., phenylalanine, tyrosine, and tryptophan could cause other type of phenylketonuria. As a result, a number of brain neurotransmitter substances are not formed and cause neurological defects.


How rare is Phenylketonuria?

About 1 in 10,000 babies born in the UK have this disorder. Both men and women can be affected by this disease.

What are the symptoms of phenylketonuria?

Symptoms begin to appear after the first few months of life. Common symptoms include developmental delay, behavioral disorders, tremor, convulsions, hair color and skin become lighter. If not managed, PKU will cause intellectual disability.


How to treat phenylketonuria?

Phenylketonuria can be treated by maintaining blood phenylalanine levels within the normal range by using a special diet, as well as drugs under certain conditions.

Babies with PKU need to get special formula milk that is free from phenylalanine. Breast milk in the right content is added to a special diet to meet the needs of phenylalanine.


Currently BH4 drugs for certain PKU conditions are also available that can help metabolism phenylketonuria. Patients with malignant PKU require additional drugs, such as 5-hydroxy-tryptophan and levodopa.

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