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[1] EC 2.3.2.2) is a transferase (a type of enzyme) that catalyzes the transfer of gamma-glutamyl functional groups from molecules such as glutathione to an acceptor that may be an amino acid, a peptide or water (forming glutamate)

The known recessive genetic defects that cause homocystinuria are summarized here: Cystathionine -synthase deficiency Homocysteine, in its oxidized disulfide form (Figure 1), was first detected in the urine of two siblings with intellectual disability in Ireland in 1963 (29)

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Maintaining adequate levels of this antioxidant is incredibly important