Effect of enzyme substitution therapy on brain magnetic resonance imaging and cognition in adults with phenylketonuria: A case series of three patients.

ABSTRACT: Phenylketonuria, the most common inherited metabolic disease, results from a deficiency of phenylalanine hydroxylase enzyme activity that causes high blood phenylalanine levels. Most adults do not adhere to the gold standard therapy: lifelong treatment with a low-phenylalanine diet. Elevated and fluctuating phenylalanine levels in untreated adults can cause white matter abnormalities, neurological symptoms, and cognitive dysfunction (executive function). Pegvaliase, a derivative of the phenylalanine ammonia-lyase enzyme, metabolizes phenylalanine to trans-cinnamic acid and ammonia, and is approved by the US Food and Drug Administration and European Medicines Agency for subcutaneous administration in adults with phenylketonuria and blood phenylalanine concentrations > 600 μmol/L. In clinica

SUBMITTER: Burlina AP 

PROVIDER: S-EPMC11554989 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature