Article
Cystathionine β-synthase deficiency: Of mice and men.
Molecular genetics and metabolism - 1 Jul 2017
Kruger Warren D
Abstract excerpt
Cystathionine β-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...
Topics
- Animals
- Animals, Newborn
- Cystathionine beta-Synthase
- Disease Models, Animal
- Genotype
- Homocysteine
- Homocystinuria
- Humans
- Male
- Metabolism, Inborn Errors
- Methionine
- Mice