methylglutaconic aciduria type 5

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methylglutaconic aciduria type 5

An autosomal recessive disorder (OMIM:610198) characterised by early-onset dilated cardiomyopathy, growth failure, cerebellar ataxia with major motor delays, testicular dysgenesis and significant increases in urine organic acids, especially 3-methylglutaconic acid and 3-methylglutaric acid.

Molecular pathology
Caused by defects of DNAJC19, which encodes a translocase that transports peptides to the mitochondrial matrix.
References in periodicals archive ?
In addition, MediTouch includes groundbreaking features for managing CMS programs such as Chronic Care Management, Medicare Advantage, PQRS and Meaningful Use, which we are proud to provide for the DCMA.
In the case of individual augmen-tees supporting DCMA, ACOs are granted the authority to administer contracts in a contingency environment.
He instructed DCMA to begin a restructuring focused on providing better pricing capability for the DoD.
A joint working group comprised of Army, Navy, and Air Force PM experts could be created to collectively address FHP-related contracting issues, should excessive confusion arise from each of the individual service's respective PM proponents interactions with DCMA.
At a hearing of the Senate Armed Services Committee earlier this month, Pentagon acquisition chief John Young said the DCMA report prompted an extensive review of Lockheed's fighter-aircraft programs.
The importance of this goal is reflected in the DCMA performance metrics, which were adopted by Rolls-Royce senior management.
Affordability has been factored high into the manufacturing matrix of the JSF, which the Defense Contract Management Agency has termed "the largest Department of Defense procurement program in history and the greatest customer challenge that DCMA has ever faced.
Based on this information, the contracting officer requested that the DCMA conduct a preaward survey.
The DCMA was chartered on March 27, 2000 and was formed from the contracting elements of the DLA.
For DCMA, it is the sense of community that our members find there, being a part of that community, and continuing to receive outstanding service.
This blueprint will give the DCMA a clear path to process improvements through the use of technology.
Morris, the US Defence Contract Management Agency (DCMA) Pacific Commander said, DCMA Pacific looked forward to teaming up with the Fleet Readiness Centre Western Pacific (FRCWP) and AIROD to deliver the KC-130J aircraft to the warfighter.