Molecular and clinical characteristics of very-long-chain acyl-CoA dehydrogenase deficiency: A single-center experience in Saudi Arabia.

ABSTRACT:

Objectives

To describe the clinical and molecular characteristics of patients with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency.   Methods: A retrospective observational cross-sectional analysis was conducted on all patients with VLCAD deficiency at  (Genetic/Metabolic Section), Prince Sultan Military Medical City (PSMMC), Riyadh, Saudi Arabia from 2000 to 2019. Demographic, clinical, and laboratory data were abstracted from the electronic hospital records using a case report form. Results: A total of 14 children were analyzed. Six presented with hypoglycemia, 4 with cardiomyopathy, and 10 had rhabdomyolysis. Five patients had early onset severe phenotype, while 9 had mild form. The molecular study revealed homozygous mutations in ACADVL in all 14 patients. Three varia

SUBMITTER: Alhashem A 

PROVIDER: S-EPMC7502945 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature