Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders.
Am J Med Genet C Semin Med Genet
; 160C(4): 285-94, 2012 Nov 15.
Article
em En
| MEDLINE
| ID: mdl-23042642
ABSTRACT
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive genetic condition with a broad phenotype that results from deficiency of the final enzyme of the cholesterol synthesis pathway. This defect causes low or low-normal plasma cholesterol levels and increased 7- and 8-dehydrocholesterol (DHC) levels. Many therapies for SLOS and other disorders of sterol metabolism have been proposed, and a few of them have been undertaken in selected patients, but robust prospective clinical trials with validated outcome measures are lacking. We review the current literature and expert opinion on treatments for SLOS and other selected sterol disorders, including dietary cholesterol therapy, statin treatment, bile acid supplementation, medical therapies, and surgical interventions, as well as directions for future therapies and treatment research.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Esteróis
/
Síndrome de Smith-Lemli-Opitz
/
Erros Inatos do Metabolismo de Esteroides
Limite:
Humans
Idioma:
En
Ano de publicação:
2012
Tipo de documento:
Article