DLD, dihydrolipoamide dehydrogenase, 1738

N. diseases: 190; N. variants: 42
Disease: Pyruvate Dehydrogenase Complex Deficiency Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0034345
Disease: Pyruvate Dehydrogenase Complex Deficiency Disease
Pyruvate Dehydrogenase Complex Deficiency Disease 		0.010 Biomarker disease BEFREE Mutations in the genes for the other subunits have all been described, but only dihydrolipoamide dehydrogenase (E3) and E3 binding protein (E3BP) defects contribute significantly to the total number of patients with PDH deficiency. 16904023 2006