A Rare Case of Cerebrotendinous Xanthomatosis Associated With a Mutation on COG8 Gene.

ABSTRACT: Cerebrotendinous xanthomatosis (CTX) is a rare hereditary disease described by a mutation in the CYP27A1 gene, which encodes the sterol 27-hydroxylase enzyme involved in the synthesis of bile acid. Accumulation of cholesterol and its metabolite, cholestanol, in multiple body organs causes the symptoms of this disease. In addition, a mutation in the COG8 gene, which encodes a subunit of conserved oligomeric Golgi (COG) complex, causes another rare disorder attributed to type IIh of congenital disorder of glycosylation (CDG). We described a rare case of CTX disorder associated with a mutation on COG8 gene, which presented by unusual symptoms.

SUBMITTER: Ghoshouni H 

PROVIDER: S-EPMC10126670 | biostudies-literature | 2023 Jan-Dec

REPOSITORIES: biostudies-literature