A Rare Case of Cerebrotendinous Xanthomatosis Associated With a Mutation on COG8 Gene.
J Investig Med High Impact Case Rep
; 11: 23247096231168109, 2023.
Article
em En
| MEDLINE
| ID: mdl-37083278
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.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Xantomatose Cerebrotendinosa
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Humans
Idioma:
En
Revista:
J Investig Med High Impact Case Rep
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Irã