Cerebrotendinous Xanthomatosis

Common Name(s)

Cerebrotendinous Xanthomatosis, Cholestanol storage disease

Cerebrotendinous xanthomatosis is a type of lipid storage disease. Symptoms of this condition include diarrhea in infants, cataracts in children, tendon xanthomas, and progressive neurologic dysfunction. It is caused by mutations in the CYP27A1 gene. Treatment may involve chenodeoxycholic acid (CDCA), inhibitors of HMG-CoA reductase, and surgery to remove cataracts.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cerebrotendinous Xanthomatosis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cerebrotendinous Xanthomatosis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Cerebrotendinous Xanthomatosis" returned 109 free, full-text research articles on human participants. First 3 results:

Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood.
 

Author(s): Bertrand Degos, Yann Nadjar, Maria del Mar Amador, Foudil Lamari, Frédéric Sedel, Emmanuel Roze, Philippe Couvert, Fanny Mochel

Journal:

 

Cerebrotendinous xanthomatosis (CTX) is among the few inherited neurometabolic disorders amenable to specific treatment. It is easily diagnosed using plasma cholestanol. We wished to delineate the natural history of the most common neurological and non-neurological symptoms in thirteen ...

Last Updated: 16 Apr 2016

Go To URL
Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes.
 

Author(s): Vivek Appadurai, Andrea DeBarber, Pei-Wen Chiang, Shailendra B Patel, Robert D Steiner, Charles Tyler, Penelope E Bonnen

Journal: Mol. Genet. Metab.. 2015 Dec;116(4):298-304.

 

Cerebrotendinous Xanthomatosis (CTX) is a treatable inborn error of metabolism caused by recessive variants in CYP27A1. Clinical presentation varies, but typically includes infant-onset chronic diarrhea, juvenile-onset bilateral cataracts, and later-onset tendinous xanthomas and progressive ...

Last Updated: 22 Dec 2015

Go To URL
Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency.
 

Author(s): Sonia Pajares, Angela Arias, Judit García-Villoria, Judit Macías-Vidal, Emilio Ros, Javier de las Heras, Marisa Girós, Maria J Coll, Antonia Ribes

Journal: J. Lipid Res.. 2015 Oct;56(10):1926-35.

 

Niemann-Pick type C (NPC) is a progressive neurodegenerative disease characterized by lysosomal/endosomal accumulation of unesterified cholesterol and glycolipids. Recent studies have shown that plasma cholestane-3β,5α,6β-triol (CT) and 7-ketocholesterol (7-KC) could be potential ...

Last Updated: 1 Oct 2015

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Cerebrotendinous Xanthomatosis" returned 4 free, full-text review articles on human participants. First 3 results:

[Cerebrotendinous xanthomatosis: physiopathology, clinical manifestations and genetics].
 

Author(s): Yudith Preiss, José L Santos, Susan V Smalley, Alberto Maiz

Journal: Rev Med Chil. 2014 May;142(5):616-22.

 

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease, caused by genetic deficiency of the 27-hydroxylase enzyme (encoded by CYP27A1). It plays a key role in cholesterol metabolism, especially in bile acid synthesis and in the 25-hydroxylation of vitamin D3 in ...

Last Updated: 27 Nov 2014

Go To URL
Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management.
 

Author(s): Shuke Nie, Guiqin Chen, Xuebing Cao, Yunjian Zhang

Journal:

 

Cerebrotendinous xanthomatosis (CTX) OMIM#213700 is a rare autosomal-recessive lipid storage disease caused by mutations in the CYP27A1 gene; this gene codes for the mitochondrial enzyme sterol 27-hydroxylase, which is involved in bile acid synthesis. The CYP27A1 gene is located on ...

Last Updated: 28 Apr 2015

Go To URL
Psychiatric manifestations in cerebrotendinous xanthomatosis.
 

Author(s): M J Fraidakis

Journal:

 

Cerebrotendinous xanthomatosis (CTX) is a rare and severe, but treatable, inborn disorder of bile acid biosynthesis and sterol storage with autosomal recessive inheritance and variable clinical presentation. CTX treatment consists of chenodeoxycholic acid and must be started as early ...

Last Updated: 4 Sep 2013

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Cerebrotendinous Xanthomatosis (CTX) Prevalence Study
 

Status: Recruiting

Condition Summary: Cerebrotendinous Xanthomatosis (CTX)

 

Last Updated: 23 Sep 2016

Go to URL