Smith-Lemli-Opitz Syndrome

M. Svoboda; E. Finanger; R. Steiner

doi:10.1016/B978-0-12-385157-4.00093-2

Smith-Lemli-Opitz Syndrome

M. Svoboda, E. Finanger, R. Steiner

Pediatrics

Research output: Chapter in Book/Report/Conference proceeding › Chapter

Abstract

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive congenital malformation syndrome due to a defect in the enzyme 7-dehydrocholesterol reductase. This enzyme is critical in cholesterol biosynthesis, and the resulting defect causes decreased cholesterol production and an increase in the potentially toxic cholesterol precursors, 7- and 8-dehydrocholesterol. The clinical phenotype encompasses a wide spectrum. This article provides a brief overview of SLOS including clinical features, diagnosis, current therapy, and future potential therapies.

Original language	English (US)
Title of host publication	Encyclopedia of the Neurological Sciences
Publisher	Elsevier Inc.
Pages	221-225
Number of pages	5
ISBN (Electronic)	9780123851574
ISBN (Print)	9780123851581
DOIs	https://doi.org/10.1016/B978-0-12-385157-4.00093-2
State	Published - Jan 1 2014

Keywords

7-Dehydrocholesterol
Autism
Cholesterol
Smith-Lemli-Opitz syndrome
Sterol disorders
Sterols

ASJC Scopus subject areas

General Medicine

Access to Document

10.1016/B978-0-12-385157-4.00093-2

Cite this

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abstract = "Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive congenital malformation syndrome due to a defect in the enzyme 7-dehydrocholesterol reductase. This enzyme is critical in cholesterol biosynthesis, and the resulting defect causes decreased cholesterol production and an increase in the potentially toxic cholesterol precursors, 7- and 8-dehydrocholesterol. The clinical phenotype encompasses a wide spectrum. This article provides a brief overview of SLOS including clinical features, diagnosis, current therapy, and future potential therapies.",

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N2 - Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive congenital malformation syndrome due to a defect in the enzyme 7-dehydrocholesterol reductase. This enzyme is critical in cholesterol biosynthesis, and the resulting defect causes decreased cholesterol production and an increase in the potentially toxic cholesterol precursors, 7- and 8-dehydrocholesterol. The clinical phenotype encompasses a wide spectrum. This article provides a brief overview of SLOS including clinical features, diagnosis, current therapy, and future potential therapies.

AB - Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive congenital malformation syndrome due to a defect in the enzyme 7-dehydrocholesterol reductase. This enzyme is critical in cholesterol biosynthesis, and the resulting defect causes decreased cholesterol production and an increase in the potentially toxic cholesterol precursors, 7- and 8-dehydrocholesterol. The clinical phenotype encompasses a wide spectrum. This article provides a brief overview of SLOS including clinical features, diagnosis, current therapy, and future potential therapies.

KW - 7-Dehydrocholesterol

KW - Autism

KW - Cholesterol

KW - Smith-Lemli-Opitz syndrome

KW - Sterol disorders

KW - Sterols

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BT - Encyclopedia of the Neurological Sciences

PB - Elsevier Inc.

ER -

Smith-Lemli-Opitz Syndrome

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

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