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Summary
27-HYDROXYLASE DEFICIENCY (CTX)
CEREBROTENDINOUS XANTHOMATOSIS CTX
213700
OMIM = Online Medalian Inheritance of Men
909
2q35
  • chenodeoxycholic acid
rare (<200 cases)
autosomal recessive
mutations in the cytochrome P450 CYP27A1 gene
symptoms
ataxia
atherosclerosis
behavior, abnormal or bizarre, confusion
behavior, autism or autistic-like
cataract
cholestasis
developmental delay
diarrhea
dysarthria
heart involvement
hypertonia, spasticity
intellectual disability/intellectual developmental disorder (ID/ IDD)
liver involvement or dysfunction
mental retardation
myocardial infarction
neurological deterioration
onset, adolescent
onset, adulthood
onset, childhood
onset, neonatal
paraparesis/paraplegia
peripheral neuropathy
respiratory insufficiency
seizures
xanthoma
laboratory finding
Cholestanol increasedplasma
Cholesterol 3.105.20normal/decreasedserum
27-Hydroxylase 100.00decreased activityfibroblasts
EEG abnormalities -
MRI, brain, abnormalities -
Literature
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Bohnhorst Bet al.Neonatal ascites due to infantile sialic acid storage diseaseMonatschr Kinderheilk1440374-3781996
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