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

JIMD Reports
Joy Yaplito-LeeDavid J Amor

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 l...Continue Reading

References

May 18, 2005·Molecular Genetics and Metabolism·Christopher A WassifForbes D Porter
Sep 14, 2007·American Journal of Medical Genetics. Part a·Massimiliano RossiGiancarlo Parenti
Jun 15, 2010·Archives of Biochemistry and Biophysics·Ryuichiro Sato
Oct 9, 2012·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Gail E Herman, Lisa Kratz
Mar 14, 2014·American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons·P L CalvoM Salizzoni
Jul 2, 2019·Journal of Pediatric Gastroenterology and Nutrition·Pankaj PrasunRonen Arnon

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