During “PKU”liar Day, celebrated on June 28, the latest advances in the disease were presented, and workshops were organized for patients and their families.
Phenylketonuria (PKU) is a rare disorder that affects protein metabolism. It is hereditary and caused by the absence of the enzyme phenylalanine hydroxylase, which breaks down the amino acid phenylalanine into tyrosine. This leads to an accumulation of phenylalanine, causing toxicity, especially in the brain, and a deficiency of tyrosine. As a consequence, damage to the central nervous system can occur, potentially resulting in severe neurocognitive disabilities.
To mark the International Day of Phenylketonuria, celebrated on June 28, Adriana Pané, researcher from the IDIBAPS Muscle Research and Mitochondrial Function group led by Josep M. Grau-Junyent, organized, together with other researchers from the Grau-Junyent team, the University of Barcelona (UB), and Hospital Sant Joan de Déu (HSJD), an outreach day for patients and their families. During “PKU”liar Day, experts and patients discussed living with the disease and the future challenges of PKU research. Additionally, practical workshops on the “mysteries of the dried blood spot” were held. This capillary blood collection method, followed by drying on paper, is crucial in PKU management as it allows monitoring of phenylalanine levels in hospital laboratories.
PKU diagnosis is part of the neonatal screening program in Catalonia. Screening is carried out at the Neonatal Screening Laboratory of the Inborn Errors of Metabolism Section – IBC of the Biochemistry and Molecular Genetics Service at Hospital Clínic, and the diagnostic confirmation is done at the Clinical Expertise Unit of Hospital Sant Joan de Déu. Early diagnosis and treatment can prevent severe and potentially irreversible neurological complications. The primary treatment consists of restricting protein intake, including meat, fish, eggs, dairy, legumes, and nuts. A pharmacological treatment (tetrahydrobiopterin) is also available, which can enhance enzymatic activity and therefore improve protein tolerance. Unfortunately, not all patients respond, and it is not always possible to follow a completely free diet.
Although the primary manifestations of PKU are neuropsychological, recent years have also highlighted cardiovascular consequences, such as a risk of hypertension, altered blood lipid levels, or diabetes, especially in adulthood. Since 2019, researchers from Clínic-IDIBAPS, UB, and HSJD have been conducting a research project funded by La Marató de TV3, studying brain function and cardiovascular risk in all individuals affected by PKU and hyperphenylalaninemia in Catalonia, using state-of-the-art technology. They also analyze the influence of gut flora, or microbiota, the molecules resulting from the body’s biological processes, and oxidative stress in the severity of clinical manifestations, as well as each patient’s response to treatment.
This is an activity of the IDIBAPS UCC+I supported by FECYT.
More information via: www.clinicbarcelona.org