SCP2 variant is associated with alterations in lipid metabolism, brainstem neurodegeneration, and testicular defects.

ABSTRACT:

Background

The detoxification of very long-chain and branched-chain fatty acids and the metabolism of cholesterol to form bile acids occur largely through a process called peroxisomal β-oxidation. Mutations in several peroxisomal proteins involved in β-oxidation have been reported, resulting in diseases characterized by neurological defects. The final step of the peroxisomal β-oxidation pathway is catalyzed by sterol carrier protein-x (SCPx), which is encoded by the SCP2 gene. Previously, there have been two reports of SCPx deficiency, which resulted from a homozygous or compound heterozygous SCP2 mutation. We report herein the first patient with a heterozygous SCP2 mutation leading to SCPx deficiency.

Results

Clinical presentations of the patient included progressive brains

SUBMITTER: Galano M 

PROVIDER: S-EPMC9396802 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature