DLD, dihydrolipoamide dehydrogenase, 1738

N. diseases: 190; N. variants: 42
Disease: ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2752074
Disease: ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY
ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY 		0.010 GeneticVariation disease BEFREE A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency. 15712224 2005