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    Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis-A case report and review of literature.

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    Author
    Yaplito-Lee, J; Pai, G; Hardikar, W; Hong, KM; Pitt, J; Marum, J; Amor, DJ
    Date
    2020-11
    Source Title
    JIMD Reports
    Publisher
    Wiley
    University of Melbourne Author/s
    Amor, David; Hardikar, Winita; Pitt, James
    Affiliation
    Paediatrics (RCH)
    Metadata
    Show full item record
    Document Type
    Journal Article
    Citations
    Yaplito-Lee, J., Pai, G., Hardikar, W., Hong, K. M., Pitt, J., Marum, J. & Amor, D. J. (2020). Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis-A case report and review of literature.. JIMD Rep, 56 (1), pp.14-19. https://doi.org/10.1002/jmd2.12158.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/252998
    DOI
    10.1002/jmd2.12158
    Open Access at PMC
    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7653246
    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 SC5D gene and by plasma sterol analysis to confirm elevated lathosterol levels. In this report, we describe a girl with transaminitis in association with developmental delay/intellectual disability, facial dysmorphism, limb anomalies, and bilateral cataracts. Fibroscan showed severe liver fibrosis. Plasma sterol analysis and exome sequencing confirmed the diagnosis of lathosterolosis. Simvastatin treatment resulted in lowering of plasma lathosterol levels, improvement in transaminitis, and liver fibrosis grade, suggesting that children with this condition should be actively treated in order to prevent progression of liver disease.

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