Disease: Methylmalonic aciduria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.150 GeneticVariation disease BEFREE We describe two siblings of Hispanic descent with SUCLA2-related mitochondrial depletion syndrome (encephalomyopathic form with methylmalonic aciduria); the older sibling is additionally affected with trisomy 21. 28749033 2017
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.150 GeneticVariation disease BEFREE The encephalomyopathic mtDNA depletion syndrome with methylmalonic aciduria is associated with deficiency of succinate-CoA ligase, caused by mutations in SUCLA2 or SUCLG1. 26475597 2016
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.150 GeneticVariation disease BEFREE A novel SUCLA2 mutation in a Portuguese child associated with "mild" methylmalonic aciduria. 24659738 2015
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.150 GeneticVariation disease BEFREE On the basis of our findings, SUCLA2 mutations should be analyzed in patients with slowly progressive encephalomyopathy, even in the absence of methylmalonic aciduria or mitochondrial DNA depletion. 24986829 2015
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.150 GeneticVariation disease BEFREE SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. 17301081 2007
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.150 Biomarker disease HPO