Mol Genet Metab. 2005 Sep-Oct;86(1-2):34-43. Epub 2005 Sep 22.

Genetic and genomic systems to study methylmalonic acidemia.

Source

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Abstract

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 of adenosylcobalamin, the cofactor for this enzyme. In this article, we will provide an overview of the pathways disrupted in these disorders, discuss the known metabolic blocks with a particular focus on molecular genetics, and review the use of selected model organisms to study features of methylmalonic acidemia.

PMID:: 16182581; [PubMed - indexed for MEDLINE]
PMCID:: PMC2657357

Free PMC Article

Images from this publication.See all images (2) Free text

Publication Types, MeSH Terms, Substances, Grant Support

Publication Types

Review

MeSH Terms

Substances

Methylmalonic Acid

Grant Support

LinkOut - more resources

Full Text Sources

Other Literature Sources

COS Scholar Universe

Medical

Supplemental Content

Save items

Related citations in PubMed

Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism. [Mol Genet Metab. 2006]
Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism.
Chandler RJ, Aswani V, Tsai MS, Falk M, Wehrli N, Stabler S, Allen R, Sedensky M, Kazazian HH, Venditti CP. Mol Genet Metab. 2006 Sep-Oct; 89(1-2):64-73. Epub 2006 Jul 14.
Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia. [Am J Hum Genet. 1990]
Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia.
Ledley FD, Crane AM, Lumetta M. Am J Hum Genet. 1990 Mar; 46(3):539-47.
Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle. [BMC Med Genet. 2007]
Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle.
Chandler RJ, Sloan J, Fu H, Tsai M, Stabler S, Allen R, Kaestner KH, Kazazian HH, Venditti CP. BMC Med Genet. 2007 Oct 15; 8:64. Epub 2007 Oct 15.
Review [Acidemia, methylmalonic]. [Ryoikibetsu Shokogun Shirizu. ...]
Review [Acidemia, methylmalonic].
Matsubara Y. Ryoikibetsu Shokogun Shirizu. 2001; (33):97-9.
Review [Methylmalonic acidemia]. [Ryoikibetsu Shokogun Shirizu. ...]
Review [Methylmalonic acidemia].
Kawakami C, Tamai H. Ryoikibetsu Shokogun Shirizu. 2000; (32):358-61.

See reviews... See all...

Cited by 7 PubMed Central articles

Review Genetic disorders of vitamin B₁₂ metabolism: eight complementation groups--eight genes. [Expert Rev Mol Med. 2010]
Review Genetic disorders of vitamin B₁₂ metabolism: eight complementation groups--eight genes.
Froese DS, Gravel RA. Expert Rev Mol Med. 2010 Nov 29; 12:e37. Epub 2010 Nov 29.
Enamel defects and salivary methylmalonate in methylmalonic acidemia. [Oral Dis. 2009]
Enamel defects and salivary methylmalonate in methylmalonic acidemia.
Bassim CW, Wright JT, Guadagnini JP, Muralidharan R, Sloan J, Domingo DL, Venditti CP, Hart TC. Oral Dis. 2009 Apr; 15(3):196-205. Epub 2009 Jan 9.
Adenovirus-mediated gene delivery rescues a neonatal lethal murine model of mut(0) methylmalonic acidemia. [Hum Gene Ther. 2008]
Adenovirus-mediated gene delivery rescues a neonatal lethal murine model of mut(0) methylmalonic acidemia.
Chandler RJ, Venditti CP. Hum Gene Ther. 2008 Jan; 19(1):53-60.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Compound (MeSH Keyword)
PubChem chemical compound records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Protein Clusters
Clusters of related proteins from the Protein Clusters database that cite the current articles. Sources of references in Protein Clusters include the associated Gene and Conserved Domain records as well as NCBI added citations.
References for this PMC Article
Citation referenced in PubMed article. Only valid for PubMed citations that are also in PMC.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Domains
Conserved Domain Database (CDD) records that cite the current articles. Citations are from the CDD source database records (PFAM, SMART).
Free in PMC
Free full text articles in PMC
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.
Cited in Books
NCBI Bookshelf books that cite the current articles.

Recent activity

Clear Turn Off Turn On

Genetic and genomic systems to study methylmalonic acidemia.
Genetic and genomic systems to study methylmalonic acidemia.
Mol Genet Metab. 2005 Sep-Oct ;86(1-2):34-43. Epub 2005 Sep 22 .

PubMed
Segmental inhibition of cutaneous heat sensation and of laser-evoked potentials ...
Segmental inhibition of cutaneous heat sensation and of laser-evoked potentials by experimental muscle pain.
Neuroscience. 2005 ;136(1):301-9. Epub 2005 Sep 21 .

PubMed
Genomic regulation after CD40 stimulation in microglia: relevance to Alzheimer's...
Genomic regulation after CD40 stimulation in microglia: relevance to Alzheimer's disease.
Brain Res Mol Brain Res. 2005 Oct 31 ;140(1-2):73-85. Epub 2005 Sep 22 .

PubMed
Development of a high performance zinc-62/copper-62 radionuclide generator for p...
Development of a high performance zinc-62/copper-62 radionuclide generator for positron emission tomography.
Eur J Nucl Med. 1992 ;19(6):418-25.

PubMed
Recent insights into the mucosal reactions associated with Giardia lamblia infec...
Recent insights into the mucosal reactions associated with Giardia lamblia infections.
Int J Parasitol. 2005 Nov ;35(13):1339-47. Epub 2005 Aug 24 .

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: