Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Very long chain acyl-CoA dehydrogenase deficiency
0.010 Biomarker disease BEFREE In 8 patients with symptomatic presentation, FAODs manifested as LCHAD/MTP deficiencies by recurrent rhabdomyolysis or cadiomyopathy (6 patients), and VLCAD deficiency by cardiomyopathy (1 patient), and CPT1A deficiency by hepatic failure (1 patient). 29519241 2018