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cerebrotendinous xanthomatosis

Epidemiology: rare Pathology: 1) abnormal breakdown of cholesterol - sterol deposits (largely cholesterol) in tendon, skin, cornea & CNS 2) atherosclerosis 3) chenodeoxycholic acid deficiency results in overproduction of cholestanol Genetics: 1) autosomal recessive 2) mutations in CYP27A1 gene Clinical manifestations: 1) spastic ataxia 2) mental retardation 3) progressive neurologic dysfunction - seizures, cognitive impairment, difficulties with coordination & balance [4] 4) premature atherosclerosis 5) cataracts 6) tendon xanthomas [4] Management: - chenodeoxycholic acid, chenodiol [4]

Related

cytochrome P450 27A1; sterol 26-hydroxylase; sterol 27-hydroxylase; vitamin D3 25-hydroxylase; 5-beta cholestane-3-alpha,7-alpha,12-alpha-triol 27 hydroxylase

General

lipid metabolism, inborn error; lipid storage disease; lipidosis

Database Correlations

OMIM 213700

References

  1. Clinical Diagnosis & Management by Laboratory Methods, J.B. Henry (ed), W.B. Saunders Co., Philadelphia, PA. 1991, pg 210
  2. OMIM :accession 213700
  3. UniProt :accession Q02318
  4. Lou N FDA Approves First Drug for Rare Lipid Storage Disorder. Chenodiol has long been used off-label for cerebrotendinous xanthomatosis. MedPage Today February 21, 2025 https://www.medpagetoday.com/publichealthpolicy/fdageneral/114332