Neurodevelopmental and Cognitive Outcomes of Classical Homocystinuria: Experience from Qatar.

ABSTRACT: BACKGROUND:Classical homocystinuria due to cystathionine β-synthase (CBS) deficiency (OMIM 236200) is a recessively inherited condition caused by mutations in the CBS gene. The founder mutation p.R336C accounts for almost all CBS deficiency in Qatar, affecting approximately 1 in 1,800 births, making it the most prevalent monogenic disease among the Qatari population. Untreated patients can have severe intellectual disability (ID), devastating multisystem complications and premature death. Current treatment is based on pharmacology therapy and life-long methionine-restricted diet, which is difficult to maintain particularly in late diagnosed individuals. Data on the neurodevelopmental and psychological impact of the disease on outcomes among Qatari patients are generally lacking and have no

SUBMITTER: El Bashir H 

PROVIDER: S-EPMC4470953 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature