glycogen-storage

© 2016            

By Keith S. Wexler, MBA, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech Consultant/Life Sciences, GENASSIST, Inc.

Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.

Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center

Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital

Glycogen Storage Disease Type 1A – von Gierke Disease is an Ashkenazi Jewish inherited disease with a carrier frequency of (1 in 71) and affects (1 in 20,000) pregnancies.

Glycogen Storage Disease Type 1A- von Gierke Disease: Autosomal recessive inheritance (25% if both parents are gene carriers) has been described.

Glycogen Storage Disease Type 1a – von Gierke Disease is characterized by accumulation of glycogen in cells. Symptoms usually present before 6 months of age and affected individuals usually reach adulthood with treatment. Symptoms include enlargement of liver, elevated lipids, low blood sugar and bowel problems, a tendency to bleed and possible seizures.

http://www.agsdus.org/html/typeigsd.html

*The Ashkenazi Jewish Screen is available in a variety of Panels:

  • Basic Panel – 3 Diseases
  • Expanded Panel – 8 Diseases
  • *Full Panel – 18 Diseases – (One company is running a 3 part Ashkenazi panel that has up to 39 diseases)

*The Full Panel is now also part of many Microarray Panels that can test for over 100 diseases.

The Jewish population is the United States as of 2012 was 6,543,820 making up 2.1% of the entire U.S. population (1).

The Ashkenazi Jewish Inherited Disease Panel was created to help screen for specific ethnic inherited diseases. Preconceptional testing is suggested to help identify or rule-out the parents as being carriers.

(1) US Census Bureau, Statistical Abstract of the United States, 2012