Chicago Center for Jewish Genetics Disorders - About the Center

New Tests Available for Individuals of Ashkenazi Jewish Descent

In response to a recent publication in the American Journal of Medical Genetics, Genzyme Genetics, a laboratory and provider of genetics services, has added a new test, glycogen storage disease, type 1a, to its panel of diseases available for carrier screening for individuals of Ashkenazi Jewish descent. According to the findings in this report, the carrier frequency of glycogen storage disease type Ia, in the Ashkenazim is 1 in 71. Testing for two of the common mutations yields a detection rate of 99% of carriers. Glycogen storage disease (GSD), like Tay-Sachs disease, is an autosomal recessive disorder, which results in an inability to breakdown glycogen into glucose, which the body needs for energy. Treatment involves modifying the diet and supplementation with uncooked cornstarch, which is generally quite effective. However, GSD can be fatal if undiagnosed and left untreated. Of the many types of GSD, type III is found more commonly in individuals of Sephardi Jewish ancestry. Read the press release for more information regarding the addition of GSD type Ia to the Ashkenazi Jewish panel of diseases from Genzyme Genetics.

In addition, a recent abstract from Mount Sinai School of Medicine in New York has suggested that a metabolic disorder called maple syrup urine disease is more frequent in the Ashkenazi Jewish population. Maple syrup urine disease or MSUD is an autosomal recessive condition, which can be a fatal neurodegenerative disease if not recognized early and managed with a life-long dietary therapy. Expanded newborn screening in many states now includes testing of infants for this condition before they are sent home from the nursery, and makes early treatment and prevention of neurologic injury possible. In this study from New York, the authors suggest a gene carrier frequency of 1 in 81 among Ashkenazi Jews. Genzyme Genetics has also added MSUD to its carrier screening panel available for Ashkenazi Jews. Read the press release for more information.

6/2005

This information is to be used for educational and informational purposes only. This information does not represent advice regarding medical diagnosis or treatment, referrals to health care professionals, endorsements of health care products or any other recommendations. This information should not be relied upon as a substitute for consultation with your doctor or other qualified health care professionals.

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