methylglutaconic aciduria type 5

(redirected from DCMA)
Also found in: Dictionary, Acronyms, Encyclopedia, Wikipedia.

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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
"And then we coordinate with DSCA and forward them out to the responsible DCMA Contract Management Office (CMO) to perform whatever is requested."
Good (Army Acquisition Corps Officer, DCMA) served as TF SAFE chief in the USE-IJ7 Directorate March-November 2011.
While attuned to DCMA's policies and processes, Rear Adm.
The length of time to hire is another continual challenge facing DCMA and other federal agencies.
DCMA-NA simultaneously used four independently operating transition teams consisting of a team lead, an Air Force captain, a DCMA quality assurance representative, and a DCMA property specialist.
* Nominating personnel to DCMA to serve as contracting officer's technical representatives (COTRs) to monitor local contractor execution of the contract.
Once USAREUR and the Bosnia and Kosovo task forces have determined their operational requirements and required support services, CETAC and DCMA ensure that those requirements and services are covered in the contract.
DCMA and other agencies now mail letters, recommending new vendors to register and become active in WAWF.
While AEGIS TECHREP and DCMA Lockheed Martin Moorestown play critical roles in providing technical and contractual oversight of Lockheed Martin and the AEGIS weapons system, it's important to recognize the role Lockheed Martin plays as well.
In the early 1990s, with mandatory personnel reductions, the pricing function began its slow move away from DCMA and toward the buying commands.
As the case study shows, working with the contractor and DCMA will often reveal the quickest and most viable way to achieve results.
In contrast, the United States implemented the WIPO Internet treaties in 1998 through the Digital Millennium Copyright Act (DCMA).