Ontology highlight
ABSTRACT:
SUBMITTER: Obaid A
PROVIDER: S-EPMC6122013 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Obaid Abdulrahman A Nashabat Marwan M Alfadhel Majid M Alasmari Ali A Al Mutairi Fuad F Alswaid Abdulrahman A Faqeih Eissa E Mushiba Aziza A Albanyan Marwah M Alalwan Maryam M Marsden Deborah D Eyaid Wafaa W
JIMD reports 20171005
<h4>Background</h4>Very long chain acyl CoA dehydrogenase (VLCAD) deficiency (OMIM#201475) is an autosomal recessive disorder of fatty acid beta oxidation caused by defect in the ACADVL. The aim of this study was to analyze the clinical, biochemical, and molecular features of VLCAD deficiency in Saudi Arabia, including the treatment and outcome.<h4>Methods</h4>We carried out a retrospective chart review analysis of 37 VLCAD deficiency patients from two tertiary centers in Saudi Arabia, over a 14 ...[more]