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Cystathionine beta-synthase deficiency: Of mice and men
Mol Genet Metab. 2017 Jul;121(3) :199-205
PMID: 28583326 PMCID: PMC5526210 URL: https://www.ncbi.nlm.nih.gov/pubmed/28583326
AbstractCystathionine beta-synthase (CBS) deficiency (Online Mendelian Inheritance in Man [OMIM] 236,200) is an autosomal recessive disorder that is caused by mutations in the CBS gene. It is the most common inborn error of sulfur metabolism and is the cause of classical homocystinuria, a condition characterized by very high levels of plasma total homocysteine and methionine. Although recognized as an inborn error of metabolism over 60years ago, these is still much we do not understand related to how this specific metabolic defect gives rise to its distinct phenotypes. To try and answer these questions, several groups have developed mouse models on CBS deficiency. In this article, we will review various mouse models of CBS deficiency and discuss how these mouse models compare to human CBS deficient patients.
Notes1096-7206 Kruger, Warren D Journal Article Review United States Mol Genet Metab. 2017 Jul;121(3):199-205. doi: 10.1016/j.ymgme.2017.05.011. Epub 2017 May 19.