Premium
Prospective treatment of cerebrotendinous xanthomatosis with cholic acid therapy
Author(s) -
Pierre Germaine,
Setchell Kenneth,
Blyth Jacqueline,
Preece Mary Anne,
Chakrapani Anupam,
McKiernan Patrick
Publication year - 2008
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-008-0815-z
Subject(s) - cerebrotendinous xanthomatosis , bile acid , ataxia , cholestasis , medicine , cholic acid , pediatrics , chenodeoxycholic acid , cerebellar ataxia , gastroenterology , endocrinology , cholesterol , cyp27a1 , psychiatry
Summary Cerebrotendinous xanthomatosis (CTX) OMIM#213700 is a rare disorder of bile acid synthesis caused by deficiency of the enzyme sterol 27‐hydroxylase. It results in deficiency of bile acids and accumulation of abnormal bile alcohols and accelerated cholesterol synthesis. CTX usually presents in the second or third decade with slowly progressive neurological dysfunction, cerebellar ataxia and premature atherosclerosis. Treatment with bile acid supplementation improves but does not completely reverse the neurological signs and symptoms. However, CTX is now known to be associated with a period of neonatal cholestasis. If it is diagnosed at this point, treatment may prevent the onset of neurological problems. We present the case histories and developmental findings in two affected siblings treated from infancy. We plan to continue regular neurodevelopmental reviews.