inborn errors pyruvate metabolism pyruvate carboxylase deficiency disease MSH2010_2010_02_22:D015324 UMLS_CUI:C0034341 SNOMEDCT_2010_1_31:87694001 OMIM2009_05_01:266150 "deficiency of pyruvic carboxylase" EXACT [SNOMEDCT_2005_07_31:124716008] URI: http://www.ebi.ac.uk/cellline#pyruvate_carboxylase_deficiency_disease "deficiency of pyruvic carboxylase" EXACT [SNOMEDCT_2005_07_31:87694001] SNOMEDCT_2010_1_31:124716008 inborn metabolic brain disease mitochondrial disease