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 117 free, full-text research articles on human participants. First 3 results:

Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene.
 

Author(s): Akari Sasamura, Satoru Akazawa, Ai Haraguchi, Ichiro Horie, Takao Ando, Norio Abiru, Hajime Takei, Hiroshi Nittono, Mizuho Une, Takao Kurosawa, Tsuyoshi Murai, Hiromu Naruse, Tomohiro Nakayama, Kazuhiko Kotani, Alan T Remaley, Atsushi Kawakami

Journal: Intern. Med.. 2018 Jun;57(11):1611-1616.

 

Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive, inborn disruption in bile acid synthesis characterized by severe systemic xanthomas, cataracts and neurological injuries occurring before adolescence without elevation of the serum cholesterol or triglyceride levels. ...

Last Updated: 31 Dec 1969

Go To URL
Prominent Tendon Xanthomas and Abdominal Aortic Aneurysm Associated with Cerebrotendinous Xanthomatosis Identified Using Whole Exome Sequencing.
 

Author(s): Hayato Tada, Syota Inaba, Daria Pozharitckaia, Masa-Aki Kawashiri

Journal: Intern. Med.. 2018 Apr;57(8):1119-1122.

 

A 63-year-old man was hospitalized due to an abdominal pulsatile mass. Computed tomography revealed a saccular type abdominal aortic aneurysm, the diameter of which was 52 mm. A physical examination revealed prominent Achilles tendon thickness and plantar xanthomas. He was born in ...

Last Updated: 31 Dec 1969

Go To URL
A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios.
 

Author(s): Frédéric M Vaz, Albert H Bootsma, Willem Kulik, Aad Verrips, Ron A Wevers, Peter C Schielen, Andrea E DeBarber, Hidde H Huidekoper

Journal: J. Lipid Res.. 2017 May;58(5):1002-1007.

 

Cerebrotendinous xanthomatosis (CTX) is a treatable neurodegenerative metabolic disorder of bile acid synthesis in which symptoms can be prevented if treatment with chenodeoxycholic acid supplementation is initiated early in life, making CTX an excellent candidate for newborn screening. ...

Last Updated: 31 Dec 1969

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 5 free, full-text review articles on human participants. First 3 results:

[Determination and hierarchy of clinical signs for early detection of cerebrotendinous xanthomatosis].
 

Author(s): Javier Vega V, Paulina Solervicens R, Alberto Maiz G, Yudith Preiss C, Patricio Mellado T, José L Santos M

Journal: Rev Med Chil. 2018 Jun;146(6):745-752.

 

Cerebrotendinous Xanthomatosis (CTX) is an autosomal recessive disease caused by mutations in the CYP27A1 gene resulting in a decreased synthesis of bile acids. An early diagnosis and treatment would reduce the longterm complications observed in this disease.

Last Updated: 31 Dec 1969

Go To URL
[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: 31 Dec 1969

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: 31 Dec 1969

Go To URL
 
 
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: 10 Oct 2018

Go to URL
The Prevalence of CTX Disorder in Juvenile Cataract Cases in Turkey
 

Status: Recruiting

Condition Summary: Cerebrotendinous Xanthomatosis

 

Last Updated: 1 Aug 2018

Go to URL