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
Dihydrolipoamide Dehydrogenase Deficiency (DLD) is a rare Ashkenazi Jewish inherited disease with a carrier frequency of (1 in 107) and affects (1 in 45,796) pregnancies.
Dihydrolipoamide Dehydrogenase Deficiency (DLD): Autosomal recessive inheritance (25% if both parents are gene carriers) has been described.
Dihydrolipoamide Dehydrogenase Deficiency (DLD) is variable in onset and severity and may be characterized by abdominal pain, enlarged liver, vomiting and brain dysfunction due to the abnormal accumulation of amino acids.
*The Ashkenazi Jewish Screen is available in a variety of Panels:
- Basic Panel – 3 Diseases
- Expanded Panel – 8 Diseases
- *Full Panel – 18 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.