Neonatal urinary steroids in Smith-Lemli-Opitz syndrome associated with 7-dehydrocholesterol reductase deficiency

Shackleton, C

doi:10.1016/s0039-128x(99)00022-7

Cited by 49Metabolism and Genetic DisordersCholesterol and Lipid MetabolismSteroid Chemistry and Biochemistry

Neonatal urinary steroids in Smith-Lemli-Opitz syndrome associated with 7-dehydrocholesterol reductase deficiency

Shackleton, C·1999·Steroids

DOI 10.1016/s0039-128x(99)00022-7

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Abstract

The biosynthetic abnormality in Smith-Lemli-Opitz syndrome (SLOS) is a deficiency of 7-dehydrocholesterol (7DHC) reductase, the enzyme responsible for catalyzing the final step in the Kandutsch-Russell pathway for cholesterol synthesis. Because the disposition of 7DHC and 8-dehydrocholesterol [8DHC; cholesta-5,8(9)-dien-3beta-ol] produced in this syndrome is little understood, we have analyzed urine from three young infants by gas chromatography/mass spectrometry to characterize its steroid metabolites. All steroid metabolites of adrenal origin found in normal infant urine were also found in urine from the patients with SLOS but in reduced amount. Quantitatively, the major steroids in these SLOS patients were identified by mass spectrometry as homologs of normal neonatal steroids possessing an additional double bond. Generally, two forms of each steroid were present in a similar amount. Because of the markedly increased levels of 7DHC and 8DHC in SLOS, these almost certainly represented the 5,7 and 5,8(9) unsaturated forms of each metabolite. The most abundant steroids were tentatively identified as 3beta,16alpha-dihydroxy-5,7-pregnadien-20-one and 3beta,16alpha-dihydroxy-5,8(9)-pregnadien-20-one, although similar 21-hydroxylated steroids and homologs of 16alpha-hydroxy-DHEA were also found. This study shows that all enzymatic steps used by cholesterol in the DHEA synthetic pathway are also functional for 7DHC and 8DHC.

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CYP11A1 action on 7DHC in vivo is supported by detection of Δ7-steroids in Smith-Lemli-Opitz syndrome patients.
“CYP11A1 action on 7DHC in vivo is further supported by detection of Δ7steroids in Smith-Lemli-Opitz syndrome patients.”
From Novel activities of CYP11A1 and their potential physiological significance (2015) · cites this paper as [60]
In Smith-Lemli-Opitz syndrome, deficiency of 7-dehydrocholesterol reductase leads to UVA photosensitivity of the skin and to formation of atypical steroids.
“Firstly, the 7-Δ reductase deficiency observed in Smith–Lemli–Opitz syndrome (SLOS), in an addition to severe malformations, results in development of skin photosensitivity to UVA [158, 159] and production a series of unusual steroids [79, 160, 161].”
From Steroidogenesis in the skin: Implications for local immune functions (2013) · cites this paper as [161]

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Authors: Shackleton, C.
Corresponding author: Shackleton, C
Venue: Steroids
Publisher: Elsevier BV
Published: 1999-07
Volume: 64
Issue: 7
Pages: 481-490
ISSN: 0039-128X (ISSN-L)
DOI: 10.1016/s0039-128x(99)00022-7
OpenAlex: W2005658147
Cited by: 48
References: 22
Citations by year: 2024: 1 · 2023: 3 · 2021: 1 · 2020: 1 · 2018: 2 · 2016: 1 · 2014: 1 · 2013: 1 · 2012: 4
FWCI: 3.29
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Steroids (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Health Sciences › Medicine › Surgery › Cholesterol and Lipid Metabolism
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Steroid Chemistry and Biochemistry
Keywords: Smith-Lemli-Opitz syndrome, 7-dehydrocholesterol, 8-dehydrocholesterol, cholesterol biosynthesis, adrenal steroids, unsaturated steroids, infants
MeSH terms: Humans, Infant, Newborn, Gas Chromatography-Mass Spectrometry, Oxidoreductases, Pregnadienes, Smith-Lemli-Opitz Syndrome, Oxidoreductases Acting on CH-CH Group Donors

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Neonatal urinary steroids in Smith-Lemli-Opitz syndrome associated with 7-dehydrocholesterol reductase deficiency

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