Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD).

ABSTRACT:

Background and purpose

Very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a hereditary disorder of mitochondrial long-chain fatty acid oxidation that has variable presentations, including exercise intolerance, cardiomyopathy and liver disease. The aim of this study was to describe the clinical and genetic manifestations of six patients with adult-onset VLCADD.

Methods

In this study, the clinical, pathological and genetic findings of six adult patients (four from Iran and two from Serbia) with VLCADD and their response to treatment are described.

Results

The median (range) age of patients at first visit was 31 (27-38) years, and the median (range) age of onset was 26.5 (19-33) years. Parental consanguinity was present for four patients. Four patients had a h

SUBMITTER: Fatehi F 

PROVIDER: S-EPMC8006598 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature