Homocystinuria

Common Name(s)

Homocystinuria, Homocysteinemia, Homocystinuria due to CBS deficiency

Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. The most common form, called cystathionine beta-synthase deficiency, is characterized by dislocation of the lens in the eye, an increased risk of abnormal blood clots, skeletal abnormalities, and sometimes problems with development and learning. Less common forms are caused by a lack of other enzymes. These disorders can cause intellectual disability, seizures, problems with movement, and a blood disorder called megaloblastic anemia. Mutations in the CBS, MTHFR, MTR, and MTRR genes cause homocystinuria, and it is inherited in an autosomal recessive manner. Treatment varies depending upon the cause of the disorder.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

Cochrane Collaboration

The Cochrane Collaboration is an international network of healthcare professionals, researchers and consumers preparing, maintaining, and disseminating high quality systematic reviews of randomised control trials. This review group focuses on genetic disorders such as cystic fibrosis (CF), haemoglobinopathies, coagulopathies and inborn errors of metabolism.

Last Updated: 12 May 2015

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Intermountain PKU and Allied Disorders Association

The mission of the Intermountain PKU and Allied Disorders Association is to provide education and resources to individuals and families, to encourage research, and to increase public awareness of these conditions.

Last Updated: 29 May 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Cochrane Collaboration

The Cochrane Collaboration is an international network of healthcare professionals, researchers and consumers preparing, maintaining, and disseminating high quality systematic reviews of randomised control trials. This review group focuses on genetic disorders such as cystic fibrosis (CF), haemoglobinopathies, coagulopathies and inborn errors of metabolism.

http://cfgd.cochrane.org

Last Updated: 12 May 2015

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Intermountain PKU and Allied Disorders Association

The mission of the Intermountain PKU and Allied Disorders Association is to provide education and resources to individuals and families, to encourage research, and to increase public awareness of these conditions.

http://www.go-ipad.org

Last Updated: 29 May 2015

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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 "Homocystinuria" returned 143 free, full-text research articles on human participants. First 3 results:

The c.797 G>A (p.R266K) cystathionine β-synthase mutation causes homocystinuria by affecting protein stability.
 

Author(s): Sapna Gupta, Liqun Wang, Warren D Kruger

Journal: Hum. Mutat.. 2017 07;38(7):863-869.

 

Mutations in the cystathionine beta-synthase (CBS) gene are the cause of classical homocystinuria, the most common inborn error in sulfur metabolism. The c.797 G>A (p.R266K) mutation in CBS was originally described in several Norwegian pyridoxine responsive CBS deficient patients, ...

Last Updated: 31 Dec 1969

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Enzyme replacement with PEGylated cystathionine β-synthase ameliorates homocystinuria in murine model.
 

Author(s): Erez M Bublil, Tomas Majtan, Insun Park, Richard S Carrillo, Helena Hůlková, Jakub Krijt, Viktor Kožich, Jan P Kraus

Journal: J. Clin. Invest.. 2016 06;126(6):2372-84.

 

Homocystinuria, which typically results from cystathionine β-synthase (CBS) deficiency, is the most common defect of sulfur amino acid metabolism. CBS condenses homocysteine and serine to cystathionine that is then converted to cysteine. Individuals with homocystinuria have markedly ...

Last Updated: 31 Dec 1969

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Vision of correction for classic homocystinuria.
 

Author(s): Dwight D Koeberl

Journal: J. Clin. Invest.. 2016 06;126(6):2043-4.

 

Inherited metabolic disorders are often characterized by the lack of an essential enzyme and are currently treated by dietary restriction and other strategies to replace the substrates or products of the missing enzyme. Patients with homocystinuria lack the enzyme cystathionine β-synthase ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Homocystinuria" returned 5 free, full-text review articles on human participants. First 3 results:

Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.
 

Author(s): Nuria Carrillo-Carrasco, Randy J Chandler, Charles P Venditti

Journal: J. Inherit. Metab. Dis.. 2012 Jan;35(1):91-102.

 

Combined methylmalonic acidemia and homocystinuria, cblC type, is an inborn error of intracellular cobalamin metabolism with a wide spectrum of clinical manifestations that is stated to be the most common inherited disorder of cobalamin metabolism. This metabolic disease is caused ...

Last Updated: 31 Dec 1969

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Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes.
 

Author(s): Nuria Carrillo-Carrasco, Charles P Venditti

Journal: J. Inherit. Metab. Dis.. 2012 Jan;35(1):103-14.

 

Combined methylmalonic acidemia and homocystinuria, cblC type, is stated to be the most common inborn error of intracellular cobalamin metabolism. The disorder can display a wide spectrum of clinical manifestations, spanning the prenatal period through late adulthood. While increased ...

Last Updated: 31 Dec 1969

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A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.
 

Author(s): Flemming Skovby, Mette Gaustadnes, S Harvey Mudd

Journal: Mol. Genet. Metab.. 2010 Jan;99(1):1-3.

 

We review the evidence that in Denmark and probably certain other European countries the number of individuals identified with homocystinuria due to homozygosity for the widespread c.833T>C (p.I278T) mutation in the gene that encodes cystathionine beta-synthase (CBS) falls far short ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 19 Apr 2018

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Natural History Study of Cystathionine Beta-synthase Deficiency Homocystinuria (CBSDH)
 

Status: Recruiting

Condition Summary: Homocystinuria Due to CBS Deficiency

 

Last Updated: 2 Jul 2018

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