December 10, 2008 09:00 ET

Genetic Disease Commonly Misdiagnosed as Urological Disorder Leads to Unnecessary Surgery in 75% of Cases: Adult Polyglucosan Body Disease Research Foundation Advises Prostate Patients to Get Tested for APBD Before Surgery

NEW YORK, NY--(Marketwire - December 10, 2008) - A recent study shows that Adult Polyglucosan Body Disease (APBD) is unrecognized by most urologists. Those who have it are undergoing unnecessary urological prostate surgeries in 75% of the cases. APBD can include symptoms often associated with enlarged prostate conditions (such as benign prostatic hypertrophy, BPH). But APBD can also rob victims of normal bodily functions and the ability to walk. The cause of this devastating condition is usually misdiagnosed. Initially thought to be a rare genetic disease, APBD may be more common and widespread than is known. APBD Research Foundation (www.apbdrf.org) has begun an awareness campaign to alert the public and the urological community, urging patients to get tested before undergoing prostate surgery if neurological symptoms associated with APBD are also present.

"Many patients remain misdiagnosed and the disease is probably under-diagnosed all over the world," says Alexander Lossos, MD, Department of Neurology, Hadassah Medical Center in Jerusalem, Israel, noting that urinary retention and incontinence in men often directs attention to prostatic enlargement.

Dr. Lossos discovered the biochemical deficiency (reduced glycogen branching enzyme activity) associated with APBD, and identified the genetic defect (Tyr329Ser) that causes reduced enzyme levels in some patients that leads to the neurological and urological problems. Today, Lossos has a large population of APBD patients under his care. Due to lack of recognition and to the small number of diagnostic laboratories, the number of patients with APBD is unknown. Information about APBD has not been publicized within the medical community.

A recent study found that 75% of male patients with APBD had undergone prostate surgery (a resection of the prostate -- or TURP) in order to improve urinary flow. However, the lack of ability to urinate actually stems from APBD's interruption of nerve signals that control bladder muscles and normally instruct the bladder to contract, and not an enlarged prostate-caused restriction of the urethra. If untreated, this condition could lead to kidney damage. Other nerve cell signal blockages due to APBD commonly lead to neurological symptoms that include poor gait or balance, sensory abnormalities including numbness in the legs and toes (peripheral neuropathy), the impairment or inability to walk and impairment in executive functions and cognition. Adult Polyglucosan Body Disease is a progressive, autosomal recessive disorder mainly affecting the central and peripheral nervous systems and affects men and women typically over age 40.

The Adult Polyglucosan Body Disease Research Foundation (APBDRF) is a non-profit organization and is the only national health organization dedicated solely to finding the cause and cure for APBD. APBDRF was founded by Executive Director Gregory Weiss, who was diagnosed with APBD in 2001. Mr. Weiss's personal experience with lack of information about APBD sparked the development of the Foundation and its determined campaign to raise awareness and encourage research.

It took two years for Mr. Weiss's mysterious condition to be correctly diagnosed. Since then, his disease has progressed and he has gone from using a cane to needing a walker to being confined to a wheelchair. "This is a disease that obviously affects your lifestyle in every way, and takes a great deal of adjusting. It can be very frustrating, but I always tell people not to give up -- that there is hope. It's important to talk to other people who have APBD, because you learn a lot about how to manage the condition." The foundation funds research for the possible treatment and cure of this disease and secures donations to underwrite research.

Recently, APBDRF assembled its Medical Advisory Board Members to present findings and possible treatments for this disease. Members include: H. Orhan Akman, PhD, Baylor Research Institute; Salvatore DiMauro, M.D., Professor of Neurology, Director of H. Houston Merritt Clinical Research Center, Columbia University and Columbia Presbyterian Medical Center; Christopher Klein, M.D., Department of Neurology, Mayo Clinic; Alexander Lossos, M.D., Department of Neurology, Hadassah University Hospital, Jerusalem; Berge Minassian, M.D., Research Scientist, The Hospital for Sick Children, Toronto University; Raphael Schiffmann, M.D., Director, Institute of Metabolic Disease, Baylor Research Institute, Dallas, TX; Edwin Kolodny, MD, Professor of Neurology, Chairman, Department of Neurology, NYU School of Medicine; Sara Shanske, Ph.D, Research Scientist at H. Houston Merritt Research Center, Columbia University.

For further information on how to get tested for APBD (a biochemical test using a blood sample) contact: Gregory Weiss (gregory@apbdrf.org); or the Department Secretary at Columbia University Medical Center: 212-305-3947; or Dr. Sara Shanske (ss33@columbia.edu) 212-305-1663.

Recent presentations by the APBD Medical Advisory Board:

  1.  "Identification of Pharmaceutical Chaperones that Enhance the
      Activity of GBE in Skin Fibroblasts from Patients with APBD,"
      Mike Tropak, PhD. Toronto University.
  2.  "Using Amylase to Clear Out Polyglucosan Bodies," Berge Minassian,
      M.D. The Hospital for Sick Children, Toronto.
  3.  "The Creation of a Knock in Mouse Model for APBD," Orhan Akman, PhD,
      Columbia University (now with Baylor Research Institute).
  4.  "Anaplerotic Therapy for APBD-A Hypothesis and Clinical Trial,"
      Raphael Schiffmann, M.D., Director, Institute of Metabolic Disease,
      Baylor Research Institute, Dallas, TX.
  5.  "Clinical Presentations of APBD," Christopher Klein, M.D., Department
      of Neurology, Mayo Clinic
  6.  Alexander Lossos, M.D., Department of Neurology, Hadassah Medical
      Center in Jerusalem on clinical findings of APBD patients.

The Adult Polyglucosan Body Disease Research Foundation (APBDRF) is a non-profiit organization dedicated to improving the diagnosis and treatment of APBD, increasing awareness of APBD among health professionals and the public, and supporting individuals and their families affected by the disease. For more information, go to www.apbdrf.org.