Do you understand this dangerous metabolic genetic disease, phenylketonuria?

Do you understand this dangerous metabolic genetic disease, phenylketonuria?

Phenylketonuria, a inherited metabolic disorders that increases phenylalanine levels in patients

Phenylketonuria (PKU) is a genetic metabolic disorder that increases phenylalanine levels in the body. Phenylalanine is one of the most important components of the amino acid protein.

People with PKU are unable to properly break down excess phenylalanine and convert it to tyrosine. This means that phenylalanine accumulates in the person's blood, urine and body.

If Phenylketonuria is not treated, phenylalanine can accumulate to harmful levels in the body.

Untreated children develop intellectual disabilities. Light-colored skin and hair, seizures, developmental delays, behavioral problems and mental disorders are also common.

Mothers with PKU and who no longer follow a phenylalanine-restricted diet are at increased risk of having a mentally retarded child because their child may have been exposed to very high levels of phenylalanine before birth.

In most cases, PKU is caused by a change in the PAH gene (pathogenic variant, also known as a mutation). The disease is inherited through autosomal recessive genetic transmission.

Since PKU can be detected and treated with a simple blood test, PKU is part of the newborn screening process. In general, treatment of PKU requires a limited phenylalanine diet and strict monitoring.

The combination of pteridine and a low-phenylalanine diet can help some children and adults with PKU. The drug polyethylene glycol glutaraldehyde will help treat adults with high phenylalanine levels for this disease.

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