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

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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MCD encodes peroxisomal and cytoplasmic forms of malonyl-CoA decarboxylase and is mutated in malonyl-CoA decarboxylase deficiency.
 

Author(s): K A Sacksteder, J C Morrell, R J Wanders, R Matalon, S J Gould

Journal: J. Biol. Chem.. 1999 Aug;274(35):24461-8.

 

Malonyl-CoA decarboxylase (MCD) catalyzes the proton-consuming conversion of malonyl-CoA to acetyl-CoA and CO(2). Although defects in MCD activity are associated with malonyl-CoA decarboxylase deficiency, a lethal disorder characterized by cardiomyopathy and developmental delay, the ...

Last Updated: 30 Sep 1999

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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

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.