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Cited by 22Metabolism and Genetic DisordersGenetic and rare skin diseases.Cholesterol and Lipid Metabolism

Relation between biomarkers and clinical severity in patients with Smith–Lemli–Opitz syndrome

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Oláh, Anna V., Szabó, Gabriella P., Varga, József, Balogh, Lídia, Csábi, Györgyi, Csákváry, Violetta, Erwa, Wolfgang, Balogh, István·2013·European Journal of Pediatrics
DOI 10.1007/s00431-012-1925-z
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Abstract

Unlabelled Smith-Lemli-Opitz syndrome (SLOS), a multiple congenital anomaly with severe mental retardation, is caused by decreased activity of 7-dehydrocholesterol reductase. Fifteen Hungarian patients were diagnosed with SLOS on the basis of clinical symptoms, serum cholesterol, 7-dehydrocholesterol, and molecular genetic testing. Their age at the time of diagnosis in mild SLOS (n = 4, clinical score <20) was 0.5-18 years, cholesterol was 2.37 ± 0.8 mmol/L, and 7DHC was 0.38 ± 0.14 mmol/L. In the group of typical SLOS (n = 7, score 20-50), the diagnosis was set up earlier (age of 0.1-7 years); t-cholesterol was 1.47 ± 0.7 mmol/L, and 7DHC was 0.53 ± 0.20 mmol/L. Patients with severe SLOS (n = 4, clinical score > 50) died as newborns and had the lowest t-cholesterol (0.66 ± 0.27 mmol/L), and 7DHC was 0.47 ± 0.14 mmol/L. Correlation coefficient with clinical severity was 0.74 for initial t-cholesterol and 0.669 for Cho/7DHC. Statistically significant difference was between the initial t-cholesterol of mild and severe SLOS (p = 0.01), and between the Cho/7DHC ratios of groups (p = 0.004). In severe SLOS, the percentage of α-lipoprotein was significantly lower than in typical (p = 0.003) and mild SLOS (p = 0.004). Although serum albumin, total bilirubin, and hemostasis parameters remained in the reference range during cholesterol supplementation (n = 10) combined with statin therapy (n = 9), increase of aspartate aminotransferase and alanine aminotransferase in 50 % of the patients probably refers to a reversible alteration of liver function; therefore, statin therapy was suspended. Conclusion life expectancy is fundamentally determined by the initial t-cholesterol, but dehydrocholesterol and α-lipoprotein have prognostic value. Accumulation of hepatotoxic DHC may inhibit the synthesis of α-lipoproteins, decreasing the reverse cholesterol transport. During statin therapy, we suggest monitoring of lipid parameters and liver function.

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Authors
Oláh, A. V., Szabó, G. P., Varga, J., Balogh, L., Csábi, G., Csákváry, V., Erwa, W., & Balogh, I.
Affiliations
  • University of Debrecen (HU)
  • Semmelweis University (HU)
  • Markusovszky Egyetemi Oktatókórház (HU)
Corresponding author
Oláh, Anna V.
ORCID
Venue
European Journal of Pediatrics
Publisher
Springer Science and Business Media LLC
Published
2013-01-15
Volume
172
Issue
5
Pages
623-630
ISSN
  • 0340-6199 (ISSN-L)
  • 1432-1076
DOI
10.1007/s00431-012-1925-z
OpenAlex
W1976959243
Cited by
22
References
44
Citations by year
2025: 2 · 2024: 1 · 2023: 1 · 2022: 1 · 2021: 5 · 2020: 3 · 2019: 1 · 2018: 1 · 2017: 3 · 2016: 1 · 2015: 2 · 2014: 1
FWCI
0.87
Type
journal article
Language
en
Open access
Licence
Locations
  • European Journal of Pediatrics (publishedVersion)
  • PubMed (publishedVersion)
  • University of Debrecen Electronic Archive (University of Debrecen) (submittedVersion, other-oa)
  • Semmelweis University Repository (Semmelweis University) (submittedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
  • Health Sciences › Medicine › Surgery › Cholesterol and Lipid Metabolism
Keywords
Smith-Lemli-Opitz syndrome, 7-dehydrocholesterol, total cholesterol, clinical severity, prognosis, alpha-lipoproteins, cholesterol supplementation, statin therapy, liver function, multiple congenital anomalies, intellectual disability, life expectancy, biomarkers, neonates, infants, children, adults, Hungary
MeSH terms
Adolescent, Child, Child, Preschool, Cholesterol, Dehydrocholesterols, Female, Humans, Hungary, Infant, Lipoproteins, HDL, Liver Function Tests, Male, Severity of Illness Index, Biomarkers, Smith-Lemli-Opitz Syndrome

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