cerebrotendinous xanthomatosis
Jump to navigation
Jump to search
Epidemiology
rare
Pathology
- abnormal breakdown of cholesterol
- sterol deposits (largely cholesterol) in tendon, skin, cornea & CNS
- atherosclerosis
- chenodeoxycholic acid deficiency results in overproduction of cholestanol
Genetics
- autosomal recessive
- mutations in CYP27A1 gene
Clinical manifestations
- spastic ataxia
- mental retardation
- progressive neurologic dysfunction
- seizures, cognitive impairment, difficulties with coordination & balance[4]
- premature atherosclerosis
- cataracts
- tendon xanthomas[4]
Management
More general terms
Additional terms
References
- ↑ Clinical Diagnosis & Management by Laboratory Methods, J.B. Henry (ed), W.B. Saunders Co., Philadelphia, PA. 1991, pg 210
- ↑ OMIM https://mirror.omim.org/entry/213700
- ↑ UniProt http://www.uniprot.org/uniprot/Q02318.html
- ↑ Jump up to: 4.0 4.1 4.2 4.3 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