Condition: S-adenosylhomocysteine hydrolase deficiency


rs121918608 in AHCY gene and S-adenosylhomocysteine hydrolase deficiency PMID 16736098 2006 S-adenosylhomocysteine hydrolase deficiency in a 26-year-old man.

PMID 20852937 2010 S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes.

PMID 19177456 2009 S-adenosylhomocysteine hydrolase (AHCY) deficiency: two novel mutations with lethal outcome.

PMID 15024124 2004 S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism.