Desmosterolosis: An illustration of diagnostic ambiguity of cholesterol synthesis disorders

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

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish (US)
Article number94
JournalOrphanet journal of rare diseases
Issue number1
StatePublished - Jun 25 2014


  • Cholesterol biosynthesis
  • DHCR24
  • Desmosterol
  • Exome sequencing
  • Intellectual disability

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pharmacology (medical)

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