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Homocystinuria


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Homocystinuria

Alternative Names:

Cystathionine beta synthase deficiency
Prevention:

Genetic counseling is recommended for prospective parents with a family history of homocystinuria. Intrauterine diagnosis of homocystinuria is available and is made by culturing amniotic cells or chorionic villi in order to test for the presence or absence of cystathionine synthase (the enzyme that is missing in homocystinuria).
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