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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
mutation in the CYP27A1 gene
symptoms
ataxia
atherosclerosis
behavior, abnormal or bizarre, confusion
cataract
cholestasis
developmental delay
diarrhea
dysarthria
heart involvement
hypertonia, spasticity
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
Chowers Iet al.Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipoproteinaemia patientsEye150525-5302001
Bohnhorst Bet al.Neonatal ascites due to infantile sialic acid storage diseaseMonatschr Kinderheilk1440374-3781996
Kaplan Pet al.Acceleration of retarded growth in children with Gaucher disease after treatment with algluceraseJ Pediatr1290149-1531996
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Newton TMurphy MS, Booth IWGlucose polymer as a cause of protractes diarrhea in infants with unsuspected congenital sucrase-isomaltase deficiencyJ Pediatr1286753-7561996
Ritz Vet al.Congenital sucrase-isomaltase deficiency because of an accumulation of the mutant enzyme in the endoplasmic reticulumGastroenterology12561678-16852003
McCann MTet al.Methylmalonic acid quantification by stable isotope dilution chromatography-mass spectrometry from filter paper urine samplesClin Chem420910-9141996
Hoffmann GFMeier-Augenstein W, St+Âckler S, Surtees R, Rating D, Nyhan WLPhysiology and Pathophysiology of Organic Acid in Cerebrospinal FluidJ Inherit Metab Dis160648-6691993
Labrune Pet al.Familial hypermethioninemia partially respond to dietary restrictionJ Pediatr1170220-2261990
Goth LA new type of inherited catalase deficiencies: its characterization and comparison to the Japanese and Swiss type of acatalasemiaBlood Cells Mol Dis272512-5172001
Goth LEaton JWHereditary catalase deficiencies and increased risk of diabetesLancet35601820-18212000