Homocystinuria : Prevention (Cystathionine beta synthase deficiency)

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Homocystinuria

Alternate 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. This involves culturing amniotic cells or chorionic villi to test for cystathionine synthase (the enzyme that is missing in homocystinuria).

If there are known specific genetic mutations in the parents or family, samples from chorionic villus sampling or amniocentesis can be used to test for these mutations.

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Review Date : 1/21/2010
Reviewed By : Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

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