AHCY, adenosylhomocysteinase, 191

N. diseases: 107; N. variants: 37
Disease: Cystathionine beta-Synthase Deficiency Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		0.010 Biomarker disease BEFREE CBS deficiency (CBS<sup>+/-</sup>) coupled with HMD led disruption of methionine/homocysteine (Hcy) metabolism leading to hyperhomocysteinemia (HHcy) in CBS<sup>+/-</sup> mice as reflected by increased Hcy, and s-adenosylhomocysteine hydrolase (SAHH) levels. 31131233 2019