Can untreated PKU patients escape from intellectual disability? A systematic review.

ABSTRACT:

Background

Phenylketonuria (PKU) is often considered as the classical example of a genetic disorder in which severe symptoms can nowadays successfully be prevented by early diagnosis and treatment. In contrast, untreated or late-treated PKU is known to result in severe intellectual disability, seizures, and behavioral disturbances. Rarely, however, untreated or late-diagnosed PKU patients with high plasma phenylalanine concentrations have been reported to escape from intellectual disability. The present study aimed to review published cases of such PKU patients.

Methods

To this purpose, we conducted a literature search in PubMed and EMBASE up to 8th of September 2017 to identify cases with 1) PKU diagnosis and start of treatment after 7 years of age; 2) untreated plasma phen

SUBMITTER: van Vliet D 

PROVIDER: S-EPMC6116368 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature