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

Endoplasmic Reticulum Stress and Autophagy in Homocystinuria Patients with Remethylation Defects.
 

Author(s): Ainhoa Martínez-Pizarro, Lourdes R Desviat, Magdalena Ugarte, Belén Pérez, Eva Richard

Journal:

 

Proper function of endoplasmic reticulum (ER) and mitochondria is crucial for cellular homeostasis, and dysfunction at either site as well as perturbation of mitochondria-associated ER membranes (MAMs) have been linked to neurodegenerative and metabolic diseases. Previously, we have ...

Last Updated: 10 Mar 2016

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Predictors of Survival in Children with Methymalonic Acidemia with Homocystinuria.
 

Author(s): Naveen Sankhyan, Pratibha Singhi

Journal: Indian Pediatr. 2015 Sep;52(9):813.

 

Last Updated: 1 Nov 2015

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Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type#.
 

Author(s): Jun Wang, Erzhen Li, Liwen Wang, Zhilong Wang, Shenghai Yang, Qiao Zhou, Qian Chen

Journal:

 

Methylmalonic aciduria and homocystinuria, cblC type, is the most common disorder of intracellular vitamin B12 (cobalamin, cbl) metabolism, which results in impaired biosynthesis of methylcobalamin and adenosylcobalamin. The gene MMACHC responsible for the cblC type had been identified, ...

Last Updated: 14 Oct 2015

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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: 2 Jan 2012

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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: 2 Jan 2012

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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: 16 Dec 2009

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Symptoms, Diagnosis, and Treatment

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

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Betaine METABOLISM OF PATIENTS With Homocystinuria
 

Status: Recruiting

Condition Summary: Homocystinuria

 

Last Updated: 12 Aug 2016

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