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.

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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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

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

View Details

 

General Support Organizations

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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:

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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[Combined methylmalonic aciduria and homocysteinemia with hydrocephalus as an early presentation: a case report].
 

Author(s): Li-Li Liu, Xin-Lin Hou, Cong-Le Zhou, Yan-Ling Yang

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2013 Apr;15(4):313-5.

 

A case of combined methylmalonic aciduria and homocysteinemia presenting with hydrocephalus as an early manifestation was reported for its rarity to see and to discuss the relationship between metabolic diseases and hydrocephalus by literature review. The case was an infant with seizures ...

Last Updated: 23 Apr 2013

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Study of the effect of antiviral therapy on homocysteinemia in hepatitis C virus- infected patients.
 

Author(s): Mubin Mustafa, Sofia Hussain, Saleem Qureshi, Salman Akbar Malik, Ali Raza Kazmi, Muhammad Naeem

Journal:

 

Hepatitis C virus (HCV) infection is one of the leading causes of chronic liver disease (CLD). About 80% of those exposed to the virus develop a chronic infection. Hyperhomocysteinemia, which is an independent risk factor for atherosclerotic vascular disease and thromboembolism, may ...

Last Updated: 6 Feb 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

Randomized Study of Folic Acid Therapy for Hyperhomocysteinemia in Patients With End Stage Renal Disease Receiving Hemodialysis
 

Status: Recruiting

Condition Summary: End Stage Renal Disease; Hyperhomocysteinemia

 

Last Updated: 23 Jun 2005

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Supplementary Vitamin B12 Affects on Elevated Homocysteine Levels of Vegetarians - Clinical Trial
 

Status: Recruiting

Condition Summary: Vitamin B12 Deficiency

 

Last Updated: 17 Jun 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: 7 May 2013

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