The phenylketonuria (PKU) test is a diagnostic tool used to test infants for phenylketonuria a few days after birth. PKU is an autosomal recessive inborn error of ...

PKU can only be treated through a strict, life-long, low-protein (low-Phe) dietetic treatment combined with a daily assumption of low-protein modified foods and medical food, which provides Phe-free ...

Newborn screening for PKU has allowed for early management of the condition, which serves to improve the prognosis in most cases. Research into PKU in adults has focused mostly on cognitive function; ...

—According to a new systematic review of the literature, despite early and continuous dietary management to lower phenylalanine levels in patients with phenylketonuria (PKU), cognition may still be ...

A special diet is the main treatment for phenylketonuria. Medications are also available. Treatment and monitoring is lifelong. Phenylketonuria (PKU) is an inherited condition where the amino acid ...

The newborn screening program in Utah is now screening for a 45th condition, one expected to affect one infant every one or two years in the state, and it helps the program save lives.

It was 50 years ago this month that the Journal of the American Medical Association published a letter from Robert Guthrie, UB professor of pediatrics and microbiology, reporting on a new test for ...