Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-12

AUTHORS

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

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. More... »

PAGES

94

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/1750-1172-9-94

DOI

http://dx.doi.org/10.1186/1750-1172-9-94

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1021888172

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/24961299


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