Diagnostic challenges and outcome of fatty acid oxidation defects in a tertiary care center in Lebanon.

ABSTRACT:

Background

Fatty acid oxidation defects are rare autosomal recessive disorders with variable clinical manifestations and outcome. Early detection by systematic neonatal screening may improve their prognosis. Long-term outcome studies of these disorders in the Middle East and North Africa region are limited. The purpose of this study is to report the diagnostic challenges and outcome of fatty acid oxidation defects in a major tertiary care center in Lebanon, a resource-constrained country in the Middle East.

Methods

A retrospective review of charts of all fatty acid oxidation defects sequential patients diagnosed and followed at our center was conducted. Collected data included: parental consanguinity, age at diagnosis, clinical presentation, biochemical profile, confirmatory

SUBMITTER: Daher RT 

PROVIDER: S-EPMC11363453 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature