Homocysteinemia

Common Name(s)

Homocysteinemia, Homocystinuria, Homocystinurias

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 "Homocysteinemia" 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: 2 Mar 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Homocysteinemia" 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: 2 Mar 2013

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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 "Homocysteinemia" returned 17 free, full-text research articles on human participants. First 3 results:

Uricemia and homocysteinemia: nontraditional risk factors in the early stages of chronic kidney disease--preliminary data.
 

Author(s): S Lai, A Mariotti, B Coppola, C Lai, P Aceto, M Dimko, A Galani, G Innico, N Frassetti, M Mangiulli, R Cianci

Journal: Eur Rev Med Pharmacol Sci. 2014 ;18(7):1010-7.

 

Patients with chronic kidney disease (CKD) show a risk of cardiovascular death, which is 10-100 times higher than that in the general population. This increase is not completely explained by the traditional cardiovascular risk factors. Hyperuricemia and hyperhomocysteinemia are highly ...

Last Updated: 25 Apr 2014

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Effect of the MTHFR 677C/T polymorphism on homocysteinemia in response to creatine supplementation: a case study.
 

Author(s): M Petr, M Steffl, E Kohlíková

Journal: Physiol Res. 2013 Dec;62(6):721-9.

 

Creatine (Cr) is recommended as a dietary supplement especially for athletes but its therapeutic potential is also discussed. It is assumed that human body uses Cr for the formation of phosphocreatine, which is necessary for muscular work as a source of energy. Production of Cr in ...

Last Updated: 23 Dec 2013

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Congenital lens dislocation and fatal cerebral vein thrombosis in a patient with homocysteinemia: a lesson for urgent screening of pediatric population.
 

Author(s): Habib Nourani Khojasteh, Abolghasem Amiri

Journal: Arch Iran Med. 2013 May;16(5):306-7.

 

Congenital homocysteinemia is a genetic disease with various clinical manifestations such as thrombosis, lens dislocation and mental retardation and osteoporosis, so early diagnosis is important for decreasing the mortality and morbidity especially in pediatric populations. Here we ...

Last Updated: 6 May 2013

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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 "Homocysteinemia" returned 2 free, full-text review articles on human participants. First 3 results:

[Homocysteinemia as a risk factor for cerebrovascular disorders. The role of age and homocysteine levels].
 

Author(s): R P Reis, J Azinheira, H P Reis, M Pereira, A Baptista, M Crepo, J E Pina, N C Ferreira, A S Luis

Journal: Acta Med Port. 1996 Jan;9(1):15-20.

 

To evaluate importance of homocysteinemia as risk factor of thrombotic cerebrovascular disease, in terms of age and homocysteinemia levels.

Last Updated: 10 Jul 1996

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The pathogenesis of homocysteinemia: interruption of the coordinate regulation by S-adenosylmethionine of the remethylation and transsulfuration of homocysteine.
 

Author(s): J Selhub, J W Miller

Journal: Am. J. Clin. Nutr.. 1992 Jan;55(1):131-8.

 

A unified, biochemical hypothesis is proposed to explain the pathogenesis of homocysteinemia. This hypothesis is based on the existence of coordinate regulation by S-adenosylmethionine (SAM) of the partitioning of homocysteine between de novo methionine synthesis and catabolism through ...

Last Updated: 31 Jan 1992

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Effect of L-Arginine and Pycnogenol on Light to Moderate Hypertension and Endothelial Function
 

Status: Recruiting

Condition Summary: Hyperhomocysteinemia; Hypertension Grade I

 

Last Updated: 18 Mar 2015

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Efficacy of Amlodipine-folic Acid Tablets on Reduction of Blood Pressure and Plasma Homocysteine
 

Status: Recruiting

Condition Summary: Essential Hypertension

 

Last Updated: 7 May 2013

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Efficacy of Amlodipine-Folic Acid Tablets on Reduction of Blood Pressure and Plasma Homocysteine
 

Status: Recruiting

Condition Summary: Essential Hypertension

 

Last Updated: 30 Sep 2013

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