Cerebrotendinous xanthomatosis: a treatable hereditary neuro-metabolic disease
| Autor: | Antonio Egidio Nardi, Jose Marcelo Ferreira Bezerra, Ana Claudia Rodrigues de Cerqueira |
|---|---|
| Rok vydání: | 2010 |
| Předmět: |
Mitochondrial enzymes
lcsh:R5-920 medicine.medical_specialty Cholesterol Cholestanol Treatment outcome Cholic acid General Medicine Biology Cerebrotendinous Xanthomatosis Sterol chemistry.chemical_compound Endocrinology chemistry Internal medicine medicine Metabolic disease lcsh:Medicine (General) Letter to the Editor |
| Zdroj: | Clinics Clinics; v. 65 n. 11 (2010); 1217-1218 Clinics; Vol. 65 Núm. 11 (2010); 1217-1218 Clinics; Vol. 65 No. 11 (2010); 1217-1218 Universidade de São Paulo (USP) instacron:USP Clinics, Vol 65, Iss 11, Pp 1217-1218 (2010) Clinics, Volume: 65, Issue: 11, Pages: 1217-1218, Published: 2010 |
| ISSN: | 1807-5932 1980-5322 |
| DOI: | 10.1590/s1807-59322010001100028 |
| Popis: | Cerebrotendinous xanthomatosis is a rare autosomalrecessive hereditary disease that is caused by a mutationin the gene encoding the mitochondrial enzyme sterol 27-hydroxylase (CYP27). The CYP27 gene is located onchromosome 2q35-qter and is responsible for the conversionof cholesterol into cholic and chenodeoxycholic acid.Cerebrotendinous xanthomatosis results in increased levelsof serum cholestanol, a cholesterol precursor, and increaseddeposition of cholestanol and cholesterol in various tissues,especially the lenses, tendons, and the central nervoussystem. The principal manifestations of Cerebrotendinousxanthomatosis include juvenile cataracts, tendon xantho-mas, and progressive neurological symptoms. |
| Databáze: | OpenAIRE |
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