Phenylalanine is one of the amino acids that make up proteins in the body, and is metabolized by enzymes in the body to another amino acid called tyrosine. Phenylketonuria is a disease in which phenylalanine is not metabolized and accumulates in the body because the enzyme activity is naturally low, and is designated as an intractable pediatric disease.
Without proper treatment, this disease may cause severe symptoms such as mental retardation and convulsions. Mass postnatal screening was introduced in 1977, and almost all affected children are now detected at an early stage. Affected children need to be on a proper diet to limit phenylalanine, and regular checkups at medical facilities are necessary, but blood samples taken every few months do not allow for meticulous dietary management. There is no home monitoring system like blood glucose for diabetics, making self-management of dietary uptake of phenylalanine difficult. Renascience is developing a system to measure blood phenylalanine concentration easily and accurately at home in collaboration with Tohoku University. We aim to make this new testing system into a kit and link it to insurance reimbursement for self-management. If the self-measurement becomes possible at any time at home, as in the case of self-glucose control in diabetic patients, detailed dietary management for patients with phenylketonuria can be realized.
In May 2021, we filed a patent application jointly with Tohoku University for the diagnostic agent, and in June 2021, we consulted with the PMDA.
In May 2023, this research was published in the scientific journal “Molecular Genetics and Metabolism Reports”.