PC, pyruvate carboxylase, 5091

N. diseases: 183; N. variants: 32
Disease: Hyperlysinemias ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		0.010 Biomarker disease BEFREE When cultured skin fibroblasts from these patients were examined for their ability to synthesize [3H]biotin-containing proteins, it was found that the two patients who presented with hyperammonemia, citrullinemia, and hyperlysinemia did not synthesise a protein of the correct subunit molecular weight (Mr = 125 K daltons) corresponding to pyruvate carboxylase. 6424438 1984