DLD, dihydrolipoamide dehydrogenase, 1738

N. diseases: 190; N. variants: 42
Disease: Lactic acidemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0347959
Disease: Lactic acidemia
Lactic acidemia 		0.010 GeneticVariation phenotype BEFREE For 1-week-old patient with congenital lactic acidemia and hypotonia (confirmed mutations in DLD gene), the rate was 1.5 μM O(2) per min per 10(7) cells. 21996136 2011