OXCT1, 3-oxoacid CoA-transferase 1, 5019

N. diseases: 20; N. variants: 2
Disease: Ketosis ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022638
Disease: Ketosis
Ketosis 		0.010 GeneticVariation disease BEFREE Over the following 2 years (2013-2014), we analyzed OXCT1 mutations in six more patients presenting with severe ketoacidosis (blood pH ≦7.25 and total ketone body ≧10 mmol/L) with non-specific urinary organic acid profiles. 28695376 2017