Homocystinuria is a genetic disorder in which the body cannot break down a particular amino acid. The disorder passes from parents to children in an autosomal recessive manner, which means that two ...
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Homocystinuria is the most common inborn error of sulfur amino acid metabolism. It is most commonly caused by cystathionine beta-synthase (CBS) deficiency, which is ...
Purpose Homocystinuria, a genetic metabolic abnormality, eventually causes a variety of ocular and other pathologies if not treated. To evaluate the results of screening newborns for homocystinuria, ...
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