Diseases

Phenylketonuria

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Phenylketonuria (pku) is a genetic disorder, in which the body is not able to break down a type of protein called phenylalanine. Phenylalanine is one of the amino acids that help in protein formation in the body. However, in phenylketonuria as the body is unable to process this amino acid, it begins to build up in the body and can be harmful.

SYMPTOMS

Phenylketonuria is a rare genetic condition, under the umbrella of inborn errors of metabolism and its occurrence is around 1 in 10,000 cases.
The gene that is responsible for the breakdown of phenylalanine in the body gets altered in persons with phenylketonuria. As a result, phenylalanine gets excessively stored in their blood and brain. If the levels become too high, it can affect the brain and also the intellectual ability.

CAUSES

Normally, when a person consumes proteins, the body derives the amino acid - phenylalanine from it. The body then breaks it into an enzyme called phenylalanine hydroxylase (pah), which is responsible for further digestion of proteins. In persons with phenylketonuria, the gene that controls the function of this enzyme pah is altered or mutated and hence the enzyme does not function properly. This leads to improper digestion of proteins and accumulation of the amino acid – phenylalanine in the body and can further affect the brain.