Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: Report of clinical and biochemical findings in four patients and treatment in one patient

M. Irons; E. R. Elias; G. S. Tint; G. Salen; R. Frieden; T. M. Buie; M. Ampola

doi:10.1002/ajmg.1320500409

Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: Report of clinical and biochemical findings in four patients and treatment in one patient

M. Irons^*, E. R. Elias, G. S. Tint, G. Salen, R. Frieden, T. M. Buie, M. Ampola

^*Corresponding author for this work

Research output: Contribution to journal › Review article › peer-review

88 Scopus citations

Abstract

We report on four patients with the Smith-Lemli-Opitz (SLO) syndrome who appear to have a defect in cholesterol biosynthesis. The initial results of therapy of one of the patients with cholesterol and bile acids to correct her metabolic abnormalities are described. This finding provides a biochemical marker to help in the diagnosis of this syndrome, may provide insight into the pathogenesis of this disorder, and have therapeutic and prenatal diagnostic implications as well.

Original language	English (US)
Pages (from-to)	347-352
Number of pages	6
Journal	American Journal of Medical Genetics
Volume	50
Issue number	4
DOIs	https://doi.org/10.1002/ajmg.1320500409
State	Published - 1994
Externally published	Yes

Keywords

7-dehydrocholesterol
Smith-Lemli-Opitz syndrome
autosomal recessive inheritance
bile acids
cholesterol
inborn error of metabolism
multiple congenital anomalies syndrome

ASJC Scopus subject areas

Genetics(clinical)

Access to Document

10.1002/ajmg.1320500409

Cite this

@article{625e79a39c3144749a84a14fa065b806,

title = "Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: Report of clinical and biochemical findings in four patients and treatment in one patient",

abstract = "We report on four patients with the Smith-Lemli-Opitz (SLO) syndrome who appear to have a defect in cholesterol biosynthesis. The initial results of therapy of one of the patients with cholesterol and bile acids to correct her metabolic abnormalities are described. This finding provides a biochemical marker to help in the diagnosis of this syndrome, may provide insight into the pathogenesis of this disorder, and have therapeutic and prenatal diagnostic implications as well.",

keywords = "7-dehydrocholesterol, Smith-Lemli-Opitz syndrome, autosomal recessive inheritance, bile acids, cholesterol, inborn error of metabolism, multiple congenital anomalies syndrome",

author = "M. Irons and Elias, {E. R.} and Tint, {G. S.} and G. Salen and R. Frieden and Buie, {T. M.} and M. Ampola",

year = "1994",

doi = "10.1002/ajmg.1320500409",

language = "English (US)",

volume = "50",

pages = "347--352",

journal = "American Journal of Medical Genetics, Part A",

issn = "1552-4825",

publisher = "Wiley-Liss Inc.",

number = "4",

}

TY - JOUR

T1 - Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome

T2 - Report of clinical and biochemical findings in four patients and treatment in one patient

AU - Irons, M.

AU - Elias, E. R.

AU - Tint, G. S.

AU - Salen, G.

AU - Frieden, R.

AU - Buie, T. M.

AU - Ampola, M.

PY - 1994

Y1 - 1994

N2 - We report on four patients with the Smith-Lemli-Opitz (SLO) syndrome who appear to have a defect in cholesterol biosynthesis. The initial results of therapy of one of the patients with cholesterol and bile acids to correct her metabolic abnormalities are described. This finding provides a biochemical marker to help in the diagnosis of this syndrome, may provide insight into the pathogenesis of this disorder, and have therapeutic and prenatal diagnostic implications as well.

AB - We report on four patients with the Smith-Lemli-Opitz (SLO) syndrome who appear to have a defect in cholesterol biosynthesis. The initial results of therapy of one of the patients with cholesterol and bile acids to correct her metabolic abnormalities are described. This finding provides a biochemical marker to help in the diagnosis of this syndrome, may provide insight into the pathogenesis of this disorder, and have therapeutic and prenatal diagnostic implications as well.

KW - 7-dehydrocholesterol

KW - Smith-Lemli-Opitz syndrome

KW - autosomal recessive inheritance

KW - bile acids

KW - cholesterol

KW - inborn error of metabolism

KW - multiple congenital anomalies syndrome

UR - http://www.scopus.com/inward/record.url?scp=0028295496&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0028295496&partnerID=8YFLogxK

U2 - 10.1002/ajmg.1320500409

DO - 10.1002/ajmg.1320500409

M3 - Review article

C2 - 8209913

AN - SCOPUS:0028295496

SN - 1552-4825

VL - 50

SP - 347

EP - 352

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 4

ER -

Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: Report of clinical and biochemical findings in four patients and treatment in one patient

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this