Patients with phenylketonuria (PKU), a rare metabolic disorder, adhere to a special—and severe—diet throughout their lives. PKU patients are unable to metabolize phenylalanine (Phe), an essential amino acid. Without intervention, Phe from the diet builds up in the body. The accumulation can lead to intellectual disability, seizures, and irreversible brain damage.
Treatment involves a strict diet with very little protein. Foods such as meat, eggs, and fish are off the table; so are nuts, beans, peas, and chocolate. To get enough nutrients, patients supplement with a Phe-free formula. As the years pass, many patients have difficulty sticking to the diet.
Marja Puurunen, senior medical director at Synlogic, and her colleagues developed a probiotic that safely helps break down Phe. The results may lead to better treatment options for PKU patients.
“Families and patients repeatedly tell us they need more options to effectively live with their disease,” Puurunen said. “This study ...