title: Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders.
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.
authors: Cristina
authors: C
authors: Dias
authors: Rosemarie
authors: R
authors: Rupps
authors: Benjamin
authors: B
authors: Millar
authors: Kunho
authors: K
authors: Choi
authors: Marco
authors: M
authors: Marra
authors: Michelle
authors: M
authors: Demos
authors: Lisa E
authors: LE
authors: Kratz
authors: Department of Medical Genetics, University of British Columbia, 4500 Oak St,, Vancouver, British Columbia, V6H 3N1, Canada. nboerkoel@cfri.ca.
authors: Cornelius F
authors: CF
authors: Boerkoel
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D002784:Cholesterol / Q000096:biosynthesis*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology
chemical_list: D002784:Cholesterol