Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1933
Definition
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
What is the cause of Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria?
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is caused by a genetic change (mutation) in the SUCLA2 gene.
Last updated on 05-01-20
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Boston, MA, 02205, United States Phone: 1-888-MITO-411 (648-6411) for support line Toll Free: 1-888-648-6228 Email: info@mitoaction.org Url: https://www.mitoaction.org/
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