© 2016, GENASSISTTM Inc.
By Keith S. Wexler, MBA, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech/Life Sciences Consultant, 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
Maple Syrup Urine Disease (MSUD) is an Ashkenazi Jewish inherited disease with a carrier frequency of (1 in 81) and affects
(1 in 26,000) pregnancies.
Maple Syrup Urine Disease (MSUD): Autosomal recessive inheritance (25% if both parents are gene carriers) has been described.
Maple Syrup Urine Disease (MSUD) is named for the odor of “maple syrup” in the urine. MSUD is variable in severity. The most common tends to be more severe with feeding difficulty, lethargy and developmental delay. If untreated, can lead to seizures and death.
*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