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: 29 May 2015

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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 Jun 2015

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General Support Organizations

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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 "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: 29 May 2015

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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 Jun 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 "Methylmalonic acidemia" returned 45 free, full-text research articles on human participants. First 3 results:

[Methylmalonic acidemia with macrocytic anemia as a prominent symptom: a case report].
 

Author(s): Wen-Tao Zang, Guang-Yao Sheng, Lu Wang, Jing-Jing Tang, Jing Luo

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2015 Jul;17(7):755-6.

 

Last Updated: 18 Jul 2015

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Prenatal identification of a novel mutation causing methylmalonic acidemia in a family without proband.
 

Author(s): Ameya Paleja, Anuradha Udumudi

Journal: J. Genet.. 2015 Jun;94(2):295-8.

 

Last Updated: 16 Jul 2015

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Pancytopenia in a patient with methylmalonic acidemia.
 

Author(s): Suzanne MacFarland, Helge Hartung

Journal: Blood. 2015 Mar;125(11):1840.

 

Last Updated: 29 Apr 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 "Methylmalonic acidemia" returned 5 free, full-text review articles on human participants. First 3 results:

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
 

Author(s): Matthias R Baumgartner, Friederike Hörster, Carlo Dionisi-Vici, Goknur Haliloglu, Daniela Karall, Kimberly A Chapman, Martina Huemer, Michel Hochuli, Murielle Assoun, Diana Ballhausen, Alberto Burlina, Brian Fowler, Sarah C Grünert, Stephanie Grünewald, Tomas Honzik, Begoña Merinero, Celia Pérez-Cerdá, Sabine Scholl-Bürgi, Flemming Skovby, Frits Wijburg, Anita MacDonald, Diego Martinelli, Jörn Oliver Sass, Vassili Valayannopoulos, Anupam Chakrapani

Journal:

 

Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism characterized by accumulation of propionic acid and/or methylmalonic acid due to deficiency of methylmalonyl-CoA mutase (MUT) or propionyl-CoA carboxylase (PCC). MMA has an estimated incidence of ~ 1: ...

Last Updated: 27 Oct 2014

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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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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

Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia
 

Status: Recruiting

Condition Summary: Propionic Acidemia; Methylmalonic Acidemia

 

Last Updated: 16 Nov 2015

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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: 26 Jan 2016

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