2019
OrphanAnesthesia – A common project of the scientific working group of paediatric anaesthesia of the German society of anaesthesiology and intensive care medicine
Publication
Publication
Anasthesiologie und Intensivmedizin , Volume 60 - Issue 9 p. S456- S463
Disease summary: Cerebrotendinous Xanthomatosis (CTX; OMIM #213700) is a rare lipid storage metabolic disease with autosomal recessive inheritance. It is characterised by deficiency of mitochondrial sterol 27-hydroxylase (CYP27) which is a key enzyme in bile acid biosynthesis. The enzyme converts cholesterol into bile acids, hence deficiency results in abnormal deposition of cholesterol and cholestenol in multiple tissues. The defect in CTX is located on CYP27A1 gene localised on the long arm of chromosome 2 [1]. Van Bogaert and colleagues first described CTX in 1937 [2]. It is estimated to occur in 3–5 out of 100,000 individuals worldwide and is more commonly seen in the Moroccan Jewish population with an incidence of 1 in 108 individuals in that group. It is also commoner in the Druze population in Israel with incidence of 1:440.
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doi.org/10.19224/ai2019.S456, hdl.handle.net/1765/119842 | |
Anasthesiologie und Intensivmedizin | |
Organisation | Erasmus MC: University Medical Center Rotterdam |
Bajekal, R. (Rahul), Habaragamuwa, B. (Buddhika), & Huidekoper, H. H. (2019). OrphanAnesthesia – A common project of the scientific working group of paediatric anaesthesia of the German society of anaesthesiology and intensive care medicine. Anasthesiologie und Intensivmedizin (Vol. 60, pp. S456–S463). doi:10.19224/ai2019.S456 |