Coordination Fitness Test

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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. 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...

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