Overview. Cerebrotendinous xanthomatosis (CTX) is a rare condition that affects the body's ability to metabolize fats known as cholesterols. Patients with CTX are unable to break down different forms of cholesterol, which build up in certain areas of the body.
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Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive genetic disorder caused by an abnormality in the CYP27A1 gene, resulting in a deficiency of ...
Sep 1, 2016 · Cerebrotendinous xanthomatosis is a disorder characterized by abnormal storage of fats (lipids) in many areas of the body.
Cerebrotendineous xanthomatosis
Genetic disorder
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Cerebrotendinous xanthomatosis, also called cerebral cholesterosis, is an autosomal recessive form of xanthomatosis. It falls within a group of genetic disorders called the leukodystrophies. Wikipedia
Jul 16, 2003 · Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease characterized by infantile-onset diarrhea, childhood-onset cataract, ...
Nov 26, 2014 · Conclusion. CTX is an inherited lipid metabolic disorder with diverse manifestations. The classical symptoms and signs, namely elevated levels ...
Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage disease associated with abnormally high cholestanol levels in the blood, ...
Dec 8, 2021 · Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder of cholesterol and bile acid metabolism that results in systemic and neurologic ...
Jan 24, 2024 · Cerebrotendinous Xanthomatosis (CTX) is a rare and presumably underdiagnosed, autosomal recessive, metabolic storage disorder.
May 24, 2022 · INTRODUCTION. Cerebrotendinous xanthomatosis (CTX; MIM 213700) is an autosomal recessive lipid storage disease caused by disruption of bile ...
Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, ...
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