OGDH, oxoglutarate dehydrogenase, 4967

N. diseases: 55; N. variants: 2
Disease: Pyruvate Carboxylase Deficiency Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0034341
Disease: Pyruvate Carboxylase Deficiency Disease
Pyruvate Carboxylase Deficiency Disease 		0.010 Biomarker disease BEFREE The distinction between the two disorders relies upon amino acid and organic acid profiles (glutamate and alpha-ketoglutarate accumulations in KGDH deficiency and hyperammonaemia and hypercitrullinaemia in PC deficiency). 8884572 1996