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ACSF3-based Diagnostics and Therapeutics for Combined Malonic and Methylmalonic Aciduria (CMAMMA) and Other Metabolic Disorders

Posted Feb 12 2012 7:00pm

Description of Invention:
Combined malonic and methylmalonic aciduria (CMAMMA) is a metabolic disorder in which malonic acid and methylmalonic acid, key intermediates in fatty acid metabolism, accumulate in the blood and urine. This disorder is often undetected until symptoms manifest, which can include developmental delays and a failure to thrive in children, and psychiatric and neurological disorders in adults. Once thought to be a very rare disease, CMAMMA is now thought to be one of the most common forms of methylmalonic acidemia, and perhaps one of the most common inborn errors of metabolism, with a predicted incidence of one in 30,000.

Investigators at the National Human Genome Research Institute (NHGRI) have identified the genetic cause of CMAMMA, an enzyme encoded by the ACSF3 (Acyl-CoA Synthetase Family Member 3) gene. This enzyme is located in the mitochondrion, and appears to be a methylmalonyl-CoA and malonyl-CoA synthetase, which catalyzes the first step of intra-mitochondrial fatty acid synthesis. As such, this discovery may not only be critical for the development of diagnostic tools and treatments for CMAMMA, but also holds promise for the treatment of other related metabolic disorders.

  • Diagnosis of CMAMMA or other metabolic diseases
  • Therapies for CMAMMA or other metabolic diseases, such as lipoic acid administration, gene therapy or enzyme replacement therapy

  • Mutation of ACSF3 has been shown to be the genetic cause of CMAMMA, and there are no existing methods to diagnose this disorder.
  • Therapies based on ACSF3 may be applicable to a variety of metabolic disorders.

Development Status:
  • In vivo data available (animal)
  • In vivo data available (human)

Charles P Venditti (NHGRI)
Leslie G Biesecker (NHGRI)
Jennifer L Sloan (NHGRI)
Jennifer J Johnston (NHGRI)
Eirini Manoli (NHGRI)
Randy J Chandler (NHGRI)

Patent Status:
HHS, Reference No. E-209-2011/0
US, Application No. 61/504,030 filed 01 Jul 2011

Relevant Publication:
  1. Sloan JL, et al. [ PMID 21841779 ]

For Licensing Information Please Contact:
Tara Kirby Ph.D.
NIH Office of Technology Transfer
6011 Executive Blvd. Suite 325,
Rockville, MD 20852
United States
Phone: 301-435-4426
Fax: 301-402-0220

Ref No: 2366

Updated: 02/2012

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