Malonyl-CoA decarboxylase deficiency

Common Name(s)

Malonyl-CoA decarboxylase deficiency, Malonic Acidemia

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Malonyl-CoA decarboxylase deficiency" for support, advocacy or research.

Organic Acidemia Association

The Organic Acidemia Association is a volunteer non-profit organization whose mission is to empower families and health care professionals with knowledge in organic acidemia metabolic disorders. We support early intervention through expanded newborn screening, solicit contributions and distribute funding that supports research toward improved treatment and eventual cures in the areas of Organic Acid disorders.

Last Updated: 12 Jul 2016

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Malonyl-CoA decarboxylase deficiency" for support, advocacy or research.

Organic Acidemia Association

The Organic Acidemia Association is a volunteer non-profit organization whose mission is to empower families and health care professionals with knowledge in organic acidemia metabolic disorders. We support early intervention through expanded newborn screening, solicit contributions and distribute funding that supports research toward improved treatment and eventual cures in the areas of Organic Acid disorders.

www.oaanews.org

Last Updated: 12 Jul 2016

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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 "Malonyl-CoA decarboxylase deficiency" returned 5 free, full-text research articles on human participants. First 3 results:

[A case of malonyl-CoA decarboxylase deficiency: clinical and genetic study].
 

Author(s): Jing Peng, Ling-Qian Wu, Ming-Xing Zhou, Le Zhong, Fei Yin

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2012 Nov;14(11):879-80.

 

Last Updated: 13 Nov 2012

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Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16.
 

Author(s): S Malvagia, L Papi, A Morrone, M A Donati, F Ciani, E Pasquini, G la Marca, H R Scholte, M Genuardi, E Zammarchi

Journal: Ann. Hum. Genet.. 2007 Nov;71(Pt 6):705-12.

 

Malonic aciduria is a rare autosomal recessive disorder caused by deficiency of malonyl-CoA decarboxylase, encoded by the MLYCD gene. We report on a patient with clinical presentation in the neonatal period. Metabolic investigations led to a diagnosis of malonyl-CoA decarboxylase ...

Last Updated: 4 Oct 2007

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Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency.
 

Author(s): René Santer, Ralph Fingerhut, Uta Lässker, Patrick J Wightman, David R Fitzpatrick, Bernhard Olgemöller, Adelbert A Roscher

Journal: Clin. Chem.. 2003 Apr;49(4):660-2.

 

Last Updated: 24 Mar 2003

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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 "Malonyl-CoA decarboxylase deficiency" returned 0 free, full-text review articles on human participants.

 
 
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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

Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome Study
 

Status: Recruiting

Condition Summary: Malonic Aciduria; Methylmalonic Acidemia

 

Last Updated: 7 Feb 2011

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