Homocystinuria
Definition
The term homocystinuria is actually a description of a biochemical abnormality, as opposed to the name of a particular disease, although many refer to homocystinuria as a disease. Homocystinuria refers to elevated levels of homocysteine in the urine. This can be caused by different biochemical abnormalities and in fact there are at least eight different gene changes that are known to cause excretion of too much homocysteine in the urine. The best known and most common cause of homocystinuria is the lack of cystathionine b-synthase. For the purpose of this entry we will be referring to "classical homocystinuria" that is caused by cystathionine b-synthase deficiency (CBS deficiency).
Description
In Northern...
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