Phenylketonuria

Phenylketonuria remains one of the most common inborn errors of metabolism. In the UK it is detected on the newborn heel-prick screening sample allowing early treatment with a strict low phenylalanine diet supplemented with artificial amino acids and appropriate vitamin and minerals. Although the long-term prognosis is good, there is an increasing body of evidence highlighting subtle problems in neuropsychological function with slower reaction times and poorer executive function than peers. White matter changes clearly seen on brain magnetic resonance imaging may have some relationship to these neuropsychological difficulties but their significance is not clearly understood.

Source: Paediatrics and Child Health - February 18, 2019 Category: Pediatrics Authors: Maureen Anne Cleary, Rachel Skeath Tags: Symposium: inborn errors of metabolism Source Type: research