Phenylketonuria (PKU) is a disorder that affects amino acid metabolism, essential molecules needed to form proteins. This causes a specific amino acid to accumulate in the tissues, leading to serious health problems if not treated early. Although there is currently no curative treatment for those affected, early detection at birth allows therapy to begin within the first few weeks of life, based on a specific diet and/or pharmacological treatment, enabling affected individuals to develop normally.
One of the consequences of this metabolic alteration is the deficit in the synthesis of certain neurotransmitters (chemical substances that transmit signals in our brain), such as dopamine and serotonin. These neurotransmitters, among other functions, regulate sleep and wakefulness, which is why individuals affected by PKU are at higher risk of experiencing sleep disorders.
The research team analyzed the prevalence of sleep disorders in a group of 32 children and adolescents with PKU who had been treated since birth. The results showed that the prevalence in PKU patients was similar to that of a control group of healthy children (12.5% in PKU patients and 15.6% in the control group). These values fall within the prevalence range of sleep disorders in the pediatric population up to the age of 12 in different countries.
Finally, the research team recommends monitoring sleep in PKU patients, particularly in older age groups or in those experiencing difficulties in managing the condition.
This is the first study on the prevalence of sleep disorders conducted in early-treated PKU children. The research team was led by Dr. Jaume Campistol, with the participation of Dr. Rosa Gassió, Dr. Julieta González, Dr. Òscar Sans, Dr. Rafa Artuch, Dr. Cristina Sierra, Dr. Aida Ormazabal, and Dr. Daniel Cuadras, all from the Sant Joan de Déu Research Institute.
Source: www.irsjd.org