MeSH definition : A multifunctional pyridoxal phosphate enzyme. In the second stage of cysteine biosynthesis
it catalyzes the reaction of homocysteine with serine to form cystathionine with the
elimination of water. Deficiency of this enzyme leads to HYPERHOMOCYSTEINEMIA and
HOMOCYSTINURIA. EC 4.2.1.22.;
A multifunctional pyridoxal phosphate enzyme. In the second stage of cysteine biosynthesis
it catalyzes the reaction of homocysteine with serine to form cystathionine with the
elimination of water. Deficiency of this enzyme leads to HYPERHOMOCYSTEINEMIA and
HOMOCYSTINURIA. EC 4.2.1.22.
http://www.cochrane.org/fr/CD008840 2013 United Kingdom France French review of literature homocystinuria infant, newborn health technology assessment neonatal screening cystathionine beta-Synthase french abstract
--- http://www.orpha.net/consor/cgi-bin/Disease_Emergency.php?lng=FR&stapage=FICHE_URGENCE_H1 https://www.orpha.net/data/patho/Pro/fr/Urgences_HomocystinurieClassique-frPro173.pdf 2007 true false France French homocystinuria homocystinuria emergency treatment emergency treatment thromboembolism thromboembolism homocystinuria homocystinuria anesthesia anesthesia cystathionine beta-Synthase cystathionine beta-Synthase practice guideline practice guideline