What is 27-HYDROXYLASE DEFICIENCY (CTX)?

rare (>300 cases) autosomal recessive mutations in the cytochrome P450 CYP27A1 gene

Which enzymes are involved?

Sterol 27-hydroxylase, mitochondrial

Disease	27-HYDROXYLASE DEFICIENCY (CTX)
Synonym	CEREBROTENDINOUS XANTHOMATOSIS; CTX
OMIM	213700 OMIM = Online Mendelian Inheritance of Men
Orphanet	909
Protein (UniProt)	Sterol 27-hydroxylase, mitochondrial
ExPASy	1.14.13.15
Gene locus	2q35
ICD	E75.5
Summary	rare (>300 cases) autosomal recessive mutations in the cytochrome P450 CYP27A1 gene
Laboratory findings	27-Hydroxylase dec (fibroblasts) Cholestanol inc (plasma) Cholesterol n/i (serum)
Symptoms	ataxia atherosclerosis behavior, abnormal or bizarre, confusion behavior, autism or autistic-like cataract cholestasis cognitive impairment developmental delay diarrhea dysarthria EEG abnormalities [-] gait disturbance heart involvement hypertonia, spasticity intellectual disability/intellectual developmental disorder liver involvement or dysfunction mental retardation MRI, brain, abnormalities [-] myocardial infarction, myocardial ischemia neurological deterioration onset, adolescent onset, adulthood onset, childhood onset, infancy onset, neonatal paraparesis/paraplegia paresis peripheral neuropathy pes cavus respiratory insufficiency seizures xanthoma