Preferred Label : cystathionine beta-Synthase;

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.;

MeSH synonym : serine sulfhydrase; beta-thionase; beta thionase; sulfhydrase, serine; cystathionine synthetase; synthetase, cystathionine; beta-synthase, cystathionine; cystathionine beta synthase;

MeSH CAS label : L-Serine hydro-lyase (adding homocysteine);

MeSH Related Number : 9023-99-8 (CAS RN);

Registry Number MeSH : EC 4.2.1.22;

MeSH annotation : /defic: consider also HOMOCYSTINURIA or HYPERHOMOCYSTEINEMIA;

Is substance : O;

UNII : EC 4.2.1.22;

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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

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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
emergency treatment
thromboembolism
homocystinuria
anesthesia
cystathionine beta-Synthase
practice guideline

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11/05/2024


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