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mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


Explore Associated Targets
Mondo Description 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.
Uniprot Description A disorder due to mitochondrial dysfunction. It is characterized by infantile onset of hypotonia, neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, variable renal tubular dysfunction, and mild methylmalonic aciduria in some patients.
Mondo Term and Equivalent IDs
MONDO:0012791:  mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
GARD:0003681: 
MESH:C567624: 
Orphanet:1933: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)