Methylmalonic acidemia

Common Name(s)

Methylmalonic acidemia, Methylmalonic Acidemia (MMA)

Methylmalonic acidemia is an inherited condition in which the body is unable to process certain proteins and fats properly. Signs and symptoms usually appear in early infancy and vary from mild to life-threatening. Affected infants can experience vomiting, dehydration, weak muscle tone (hypotonia), developmental delay, lethargy, hepatomegaly, and failure to thrive. Long-term complications can include feeding problems, intellectual disability, chronic kidney disease, and pancreatitis. Without treatment, this condition can lead to coma and death in some cases. Mutations in the MUT, MMAA, MMAB, MMADHC, and MCEE genes cause methylmalonic acidemia. It is inherited in an autosomal recessive fashion.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Methylmalonic acidemia" 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.

Last Updated: 2 Mar 2013

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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: 18 Mar 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Methylmalonic acidemia" 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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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: 18 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 "Methylmalonic acidemia" returned 36 free, full-text research articles on human participants. First 3 results:

[A preliminary study of plasma microRNA levels in children with methylmalonic acidemia].
 

Author(s): Yan-Fei Li, Tao Peng, Ran-Ran Duan, Xiao-Han Wang, Hui-Li Gao, Jing-Tao Wang, Jun-Fang Teng, Yan-Jie Jia

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2014 Jun;16(6):629-33.

 

To screen out differentially expressed microRNAs (miRNAs) in the plasma of children with methylmalonic acidemia (MMA), to determine the expression of miR-9-1 in plasma and to preliminarily evaluate the significance of miR-9-1 as a biomarker in MMA.

Last Updated: 14 Jun 2014

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[Mental symptoms as the first presentation of late-onset methylmalonic acidemia: report of 3 cases].
 

Author(s): Yan-Fei Li, Tao Peng, Xing-Rong Ma, Gui-Fang Sun, Yan-Jie Jia

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2014 Jan;16(1):85-6.

 

Last Updated: 27 Jan 2014

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Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia.
 

Author(s): Irini Manoli, Justin R Sysol, Lingli Li, Pascal Houillier, Caterina Garone, Cindy Wang, Patricia M Zerfas, Kristina Cusmano-Ozog, Sarah Young, Niraj S Trivedi, Jun Cheng, Jennifer L Sloan, Randy J Chandler, Mones Abu-Asab, Maria Tsokos, Abdel G Elkahloun, Seymour Rosen, Gregory M Enns, Gerard T Berry, Victoria Hoffmann, Salvatore DiMauro, Jurgen Schnermann, Charles P Venditti

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2013 Aug;110(33):13552-7.

 

Isolated methylmalonic acidemia (MMA), caused by deficiency of the mitochondrial enzyme methylmalonyl-CoA mutase (MUT), is often complicated by end stage renal disease that is resistant to conventional therapies, including liver transplantation. To establish a viable model of MMA ...

Last Updated: 14 Aug 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 "Methylmalonic acidemia" returned 4 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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Genetic and genomic systems to study methylmalonic acidemia.
 

Author(s): R J Chandler, C P Venditti

Journal: Mol. Genet. Metab.. ;86(1-2):34-43.

 

Methylmalonic acidemia (MMAemia) is the biochemical hallmark of a group of genetic metabolic disorders that share a common defect in the ability to convert methylmalonyl-CoA into succinyl-CoA. This disorder is due to either a mutant methylmalonyl-CoA mutase apoenzyme or impaired synthesis ...

Last Updated: 5 Oct 2005

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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

Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia
 

Status: Recruiting

Condition Summary: Propionic Acidemia (PA); Methylmalonic Acidemia (MMA)

 

Last Updated: 19 Jun 2014

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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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Short-term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia
 

Status: Recruiting

Condition Summary: Propionic Acidemia (PA); Methylmalonic Acidemia (MMA); Late-onset CPS1 Deficiency (CPSD); Late-onset Ornithine Transcarbamylase Deficiency (OTCD)

 

Last Updated: 24 Nov 2014

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