ArticleJIMD reports2020
Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis-A case report and review of literature.
Article in JIMD reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 11 citations in OpenAlex.
- Modeling Inherited Disorders of Post-Lanosterol Cholesterol Biosynthesis: From Animal Models to Patient-Derived Stem Cells.International journal of molecular sciences · 2026Review
- Article
- Investigating Psychopharmaceutical Effects on Early Vertebrate Development Using a Zebrafish Model System.Journal of developmental biology · 2025Article
- Craniofacial bone anomalies related to cholesterol synthesis defects.Scientific reports · 2024Article
- Role of Cholesterol and its Biosynthetic Precursors on Membrane Organization and Dynamics: A Fluorescence Approach.The Journal of membrane biology · 2023Article
- Dietary supplementation with honeycomb extracts positively improved egg nutritional and flavor quality, serum antioxidant and immune functions of laying ducks.Frontiers in veterinary science · 2023Article
- Article
- Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis-A case report and review of literature.JIMD reports · 2020Article
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lathosterolosis is a rare autosomal recessive disorder of cholesterol biosynthesis. It is caused by defects in the SC5D (sterol C5-desaturase) gene which encodes for the 3-beta-hydroxysteroid-delta-5-desaturase (also called sterol-C5-desaturase or lathosterol dehydrogenase). Only six cases have been described in the literature, but it is possible that a number of patients with milder forms of the condition might have been missed. Lathosterolosis manifests as microcephaly, bilateral cataracts, dysmorphism, limb anomalies, and developmental delay/intellectual disability. Liver involvement is variable and can range from normal liver function tests to portal fibrosis and cirrhosis. Diagnosis is made by demonstration of specific mutations in the
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