Abstract | BACKGROUND: METHODS: The urinary steroids were investigated by electrospray mass spectrometry and gas chromatography mass spectrometry. Oxysterols in plasma were analysed by isotope dilution mass spectrometry. Mutations in the sterol 27-hydroxylase gene were detected by PCR. RESULTS: CONCLUSIONS: Fetal and neonatal deaths among siblings of patients with CTX have been reported previously and the present case supports the contention that reduced activity of the sterol 27-hydroxylase may predispose to the development of neonatal cholestasis. The associated viral infection may have further precipitated the liver disease. Since CTX, like other inborn errors of bile acid synthesis may be treated with bile acids an early diagnosis is essential. Thus, the analysis of urine by electrospray mass spectrometry is highly recommended in the investigation of patients with neonatal cholestasis.
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Authors | Sara von Bahr, Ingemar Björkhem, Ferdinand Van't Hooft, Gunvor Alvelius, Antal Nemeth, Jan Sjövall, Björn Fischler |
Journal | Journal of pediatric gastroenterology and nutrition
(J Pediatr Gastroenterol Nutr)
Vol. 40
Issue 4
Pg. 481-6
(Apr 2005)
ISSN: 0277-2116 [Print] United States |
PMID | 15795599
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Steroid Hydroxylases
- CYP27A1 protein, human
- Cholestanetriol 26-Monooxygenase
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Topics |
- Cholestanetriol 26-Monooxygenase
- Cholestasis
(genetics)
- DNA Mutational Analysis
- Exons
- Fatal Outcome
- Humans
- Infant
- Infant, Newborn
- Male
- Mutation
- Polymerase Chain Reaction
- Steroid Hydroxylases
(genetics)
- Xanthomatosis, Cerebrotendinous
(diagnosis, genetics)
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