Phenylketonuria

Phenylketonuria is an inborn error of metabolism caused by a deficiency of the enzyme phenylalanine hydroxylase, the enzyme responsible for catalyzing the conversion of the essential amino acid phenylalanine to the amino acid tyrosine. Due to the enzyme deficiency, phenylalanine accumulates, which is toxic to the central nervous system.

The enzyme deficiency is caused by mutations in the PAH gene. Both alleles of the gene must carry the mutation, making it an autosomal recessive condition.

In its classic form, if not treated correctly, phenylketonuria can lead to severe intellectual disability, as well as microcephaly, seizures, behavioral changes, and eczema. Symptoms develop over the months after birth as phenylalanine accumulation increases.

There are milder forms of the condition, which vary according to phenylalanine levels.

Diagnosis

Phenylketonuria can be detected early in newborns through the heel prick test, a free test provided by the Unified Health System (SUS) since 1992. It is crucial to perform the test, which should preferably be performed between the third and fifth days of the baby's life. If an increase in serum phenylalanine levels is identified, a protocol for diagnostic confirmation and treatment is initiated.

Treatment

Phenylketonuria is primarily treated with a phenylalanine-restricted diet, aiming to reduce serum phenylalanine levels and prevent neurological complications.

Patients should be monitored by a multidisciplinary team, working with a geneticist and nutritionist to prescribe an appropriate diet that meets the patient's needs and does not aggravate the condition.

Pregnant women with phenylketonuria require special monitoring during pregnancy. Phenylalanine accumulation is toxic to the baby and can lead to intrauterine growth restriction, microcephaly, heart defects, and neurological developmental disorders.

Services for assistance to people with phenylketonuria

If you have already been diagnosed with phenylketonuria or a rare disease, or if you have symptoms and/or characteristics of a pathology, contact Casa Hunter. The institution will assist you from obtaining a correct and specific diagnosis to defending your rights with the Unified Health System (SUS) and/or health plans, ensuring quality treatment.

Casa Hunter has a team of qualified professionals and a department specialized in administrative processes that seek access to your rights. The service is free of charge.