A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency.

ABSTRACT:

Background

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a rare inherited disease caused by pathogenic variants of HADHA gene. Along with signs common to fatty acid oxidation defects (FAOD), specific retina and heart alterations are observed. Because long-chain fatty acid oxidation is selectively affected, supplementations with short/medium-chain fats represent energetic sources bypassing the enzymatic blockade. Here, we report on an atypical presentation of the disease.

Methods

Clinical features were described with medical explorations including ophthalmic and cardiac examination. Biological underlying defects were investigated by measurements of biochemical metabolites and by fluxomic studies of mitochondrial β-oxidation. Whole exome sequencing a

SUBMITTER: Dessein AF 

PROVIDER: S-EPMC9248219 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature