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Open Access 01-12-2014 | Letter to the Editor

Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders

Authors: Cristina Dias, Rosemarie Rupps, Benjamin Millar, Kunho Choi, Marco Marra, Michelle Demos, Lisa E Kratz, Cornelius F Boerkoel

Published in: Orphanet Journal of Rare Diseases | Issue 1/2014

Abstract

Desmosterolosis is an autosomal recessive disorder of cholesterol biosynthesis caused by biallelic mutations of DHCR24 (homozygous or compound heterozygous), which encodes 3-β-hydroxysterol Δ-24-reductase. We report two sisters homozygous for the 571G>A (E191K) DHCR24 mutation. Comparison of the propositae to other reported individuals shows that psychomotor developmental delay, failure to thrive, dysgenesis of the corpus callosum, cerebral white matter atrophy and spasticity likely constitute the minimal desmosterolosis phenotype. The nonspecific features of desmosterolosis make it difficult to suspect clinically and therefore screening for it should be entertained early in the diagnostic evaluation.

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Title: Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders
Authors: Cristina Dias
Rosemarie Rupps
Benjamin Millar
Kunho Choi
Marco Marra
Michelle Demos
Lisa E Kratz
Cornelius F Boerkoel
Publication date: 01-12-2014
Publisher: BioMed Central
Published in: Orphanet Journal of Rare Diseases / Issue 1/2014
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/1750-1172-9-94

Keynote webinar | Spotlight on sleep in brain health

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Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders

Abstract

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

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