DLD, dihydrolipoamide dehydrogenase, 1738

N. diseases: 190; N. variants: 42
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238391
Disease: PRIMARY LACTIC ACIDOSIS
PRIMARY LACTIC ACIDOSIS
0.010 GeneticVariation disease BEFREE Dihydrolipoamide dehydrogenase (DLD) deficiency is a rare cause of primary lactic acidosis in infancy. 11687750 2002