Screening For MSUD And Other Diseases

States and Newborn Screening
All states in the U.S. require that newborns be tested for metabolic disorders. However, the number of disorders screened varies from state to state. For instance, less than half of the states screen for maple syrup urine disease. It is recommended to get supplemental newborn screening to ensure your baby receives a comprehensive screen. To learn more about the newborn screening status of your state, click here. For details on newborn screening check these web sites: www.savebabies.org and www.newbornscreening.info.

Supplemental Newborn Screening
Contract one of the laboratories listed below to obtain a free packet containing a screening kit and information for you and your physician. For a newborn, the screening kit should be obtained prior to delivery and taken to the hospital with you. Pediatrix offers the most comprehensive screening program.

• Pediatrix Screening, Inc is a laboratory specializing in newborn screening and the identification of inborn errors of metabolism. The product offered, StepOne TM Supplemental Newborn Screening, is a test that can detect more than 50 metabolic disorders, including MSUD. The cost for the program is $89 plus shipping. For details and a list of the disorders that are included in the screening, check their Web site: www.pediatrixscreening.com. Call 866-463-6436 or click here for a screening kit.


• Mayo Medical Laboratories offers screening for 35 disorders, including MSUD, for $50. Patients who are interested in ordering these tests may request them through their physician. Physicians or hospital laboratory managers should call Mayo Medical Laboratories at 1-800-533-1710 or 1-507-266-5700. For more information, click here.


• The Institute of Metabolic Disease at Baylor Medical Center offers supplemental newborn screening for 30 disorders for $25. Call 800-422-9567 or for more information, click here.


• University of Colorado Health Sciences Center Biochemical Genetics Laboratory offers expanded newborn screening for over 20 disorders for $25. They do not screen for the 7 disorders that are included in the Colorado state newborn screening program. MSUD is not included in the state newborn screening program, only in this expanded screening program.
  
  Lab Phone:  (303) 724-3826
  Voicemail:  (303) 837-3871
  Lab Fax:  (303) 724-3827
  Email: kopinsky.sarina@tchden.org
  For more information, click here.

Testing For Disorders In Older Children
Most supplemental newborn screening tests can also be used to identify disorders in older children. (The University of Colorado Health Sciences Laboratory does not screen older children.) There are mild forms of MSUD that may be detectable with the newer tests using tandem Mass Spectrometry. Check with a doctor or a screening center for details. Be aware that the maple syrup (syrupy sweet) odor of the urine is frequently noticed in individuals without MSUD. Only testing will identify those with MSUD.

Websites For More Information On Newborn Screening

• http://www.newbornscreening.info


• http://genes-r-us.uthscsa.edu


• http://www.SaveBabies.org


• http://www.AboutNewbornScreening.com


• http://www.aboutnewbornscreening.com

Mutation Identification For MSUD

The Clinic for Special Children laboratory in Strasburg, PA offers mutation detection and mutation identification for several diseases including MSUD. For information on their laboratory services, click here.

Molecular (DNA) Testing And Enzyme Analysis For MSUD

Emory University has a long-standing commitment to the diagnosis and treatment of metabolic disorders. Their metabolic specialty clinic combines the expertise of a team of individuals including M.D. clinical geneticists, metabolic nutritionists, genetic counselors, biochemical geneticists and molecular geneticists who are involved in the diagnosis and care of patients. As part of this commitment, they are expanding their testing services for maple syrup urine disease (MSUD). In addition to the biochemical enzyme analysis currently performed at Emory Genetics Laboratory for the prenatal and postnatal diagnosis of MSUD, they are now offering molecular (DNA) testing for MSUD, including the following:

• Sequencing testing for the most common genetic alteration (also called a mutation) found in the Mennonite population and Ashkenazi Jewish population.


• For families with known MSUD mutations or those with mutations identified in a research laboratory, Emory Genetics Laboratory can confirm such mutations and offer prenatal testing in a future pregnancy and carrier testing for at-risk family members.


• Beginning in June 2004, Emory Genetics Laboratory will be offering full sequencing of the 3 genes responsible for MSUD. Sequence analysis involves looking at each individual base pair of the genes to look for a mutation(s) that would disrupt the function of the gene. Identifying a mutation(s) in the family allows carrier testing for at-risk family members.

Carrier Testing For MSUD

Carrier testing is only available for the specific classic type of MSUD mutation called Mennonite Classic. There is a high incidence of this mutation in the Mennonite religious group who originate from German/Swiss ancestry which gives this mutation its name. Since Mennonites intermarry frequently within their own group, the frequency is much higher than in the general population. However, this mutation has been identified in other persons who are not from Mennonite background. The University of Missouri Medical School in Columbia developed a very simple test to identify this mutation. For more information, see the article Research and Carrier Testing for MSUD in the Fall/Winter 1997-98 issue of the MSUD Newsletter. Below is the information to contact the laboratory doing the testing:

Charlotte L. Phillips, Ph.D.
Associate Professor
Departments of Biochemistry and Child Health
Division of Medical Genetics
University of Missouri Medical School-Columbia
M743 Medical Sciences Bldg.
Columbia, Missouri 65212
Tel: (573) 882-5122 Fax: (573) 884-4597
E-mail: PhillipsCL@missouri.edu