A Rare Case of Cerebrotendinous Xanthomatosis Associated With a Mutation on COG8 Gene
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 sym...
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| Main Authors: | , , , , |
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| Format: | Book |
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SAGE Publishing,
2023-04-01T00:00:00Z.
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| Summary: | 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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| Item Description: | 2324-7096 10.1177/23247096231168109 |