cerebrotendinous xanthomatosis

Epidemiology

rare

Pathology

• 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
• premature atherosclerosis
• cataracts

More general terms

• lipid metabolism, inborn error; lipid storage disease; lipidosis

Additional terms

• 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

Database

• OMIM: https://mirror.omim.org/entry/213700