Bassen-Kornzweig Syndrome - Jewish Genetic Disease

Description
Bassen-Kornzweig syndrome (also known as Abetalipoproteinemia) is a rare, autosomal recessive inherited disease in which a person is unable to fully absorb dietary fats through the intestines. This condition is caused by a defect in the microsomal triglyceride transfer (MTP) gene. The defect on the gene causes the body the inability to create lipoproteins thereby inhibiting the afflicted individual from properly digesting fats and certain vitamins.

Symptoms
   • Poor balance and coordination
   • Developmental Delay
   • Failure to Thrive
   • Curvature of the spine
   • Abdominal protrusion
   • Muscular debilitation
   • Development of poor muscle coordination usually after the age of 10
   • Progressively worsening visual acuity
   • Poor vision may be the result of retinitis pigmentosa, cataracts and poor eye control
   • Slurred speech
   • Abnormal stools: Pale, frothy stools that are fatty and extensively foul-smelling.

Incidence and Carriers
Though it does affect girls, for unknown reasons the incident of Bassen-Kornzweig syndrome is approximately 70% greater in males. Originally the majority of the patients described as having Bassen-Kornzweig syndrome, including the first case on record in 1950, were of Jewish descent.

Treatment
Currently there is no cure for Bassen-Kornzweig Syndrome. Treatment is focused on alleviating the symptoms associated with this condition. The treatment is based on dietary restrictions and fat-soluble vitamins supplementation. Dietary restrictions focus on avoiding long chain triglycerides and limiting fat intake to 5 – 20 grams per day. Large doses of fat soluble vitamins A, D, E and K are prescribed as well as Linoleic acid.

Testing
To diagnose Bassen-Kornzweig the following tests are done:
   • Blood Tests for:
          ◦ Apolipoprotein B
          ◦ Fat-solube vitamin deficiencies
          ◦ Complete blood count
          ◦ Cholesterol
   • Muscle Strength testing
   • Nerve conduction velocity
   • Eye Exam
   • Stool analysis for fat content

Laboratories and Screening
The following laboratories offer genetic testing for Bassen-Kornzweig:
• Israel
• Europe

ISRAEL
G.G.A - Galil Genetic Analysis Ltd
P.O.B - 3664
Zip. Code12900, Kazerin
Phone: (+972) 4-9007100
Fax: (+972) 4-9007111
Email: gga@gga.org.il
Director: Prof Stavit Allon-Shalev

Pronto Diagnostics Ltd.
19A Habarzel St.
Ramat Hachayal,
Tel Aviv 69710, Israel
Director: Dr Ruth Shomrat
Phone: (+972) 73-2126155
Fax: (+972) 73-2126144
E-mail:info@prontodiagnostics.com

EUROPE
• Germany

GERMANY
CeGaT GmbH
Tuebingen, Germany
Director: Saskia Biskup, MD, PhD
Phone: (+49) 172 3765180
Email: saskia.biskup@cegat.de

Resources and More
Foundation Fighting Blindness.
Executive Plaza 1, 11350 McCormick Road, Suite 800,
Hunt Valley, MD 21031-1014.
Phone: (410) 785-1414 or (888) 394-3937.
Email: jchader@blindness.org
Web: http://www.blindness.org

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Phone: (914)997-4488
Fax: (914)997-4763
Phone: (888)663-4637
Email: Askus@marchofdimes.com
Web: http://www.marchofdimes.com

Retinitis Pigmentosa International
23241 Ventura Blvd. #117
Woodland Hills, CA 91364
Phone: (818) 992-0500
Fax: (818) 992-3265
Phone: (800) 344-4877
Email: info@rpinternational.org
Web: http://www.rpinternational.org

NIH/National Heart, Lung and Blood Institute
P.O. Box 30105
Bethesda, MD 20892-0105
Phone: (301) 592-8573
Fax: (301) 251-1223
Email: nhlbiinfo@rover.nhlbi.nih.gov
Web: http://www.nhlbi.nih.gov/

NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Endocrine Diseases Metabolic Diseases Branch
9000 Rockville Pike
31 Center Drive, MSC 2560
Bethesda, MD 20992
Phone: (301) 496-3583
Email: NDDIC@info.niddk.nih.gov
Web: http://www2.niddk.nih.gov/

Support Groups
Abetalipoproteinemia Support Group.
14252 Culver drive #543, Irvine, CA 92604
Email: abetalipoproteinemia@yahoogroups.com
Web: http://groups.yahoo.com/group/Abetalipoproteinemia

CLIMB (Children Living with Inherited Metabolic Diseases).
The Quadrangle, Crewe Hall,
Weston Road, Crewe, Cheshire,
CW1-6UR, United Kingdom. (127) 0 2-50221.
Email: Lesley@climb.org.uk
Web: http://www.CLIMB.org.uk

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Phone: (920) 336-5333
Fax: (920) 339-0995
Phone: (877) 336-5333
Email: mums@netnet.net
Web: http://www.netnet.net/mums/

Abetalipoproteinemia Support Group
Web: (480) 659-0540
Fax: Cell: (480) 688-9027
Web: http://groups.yahoo.com/search?query=Abetalipoproteinemia+Support+Group

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Phone: (310) 264-0826
Fax: (310) 264-4766
Email: getinfo@madisonsfoundation.org
Web: http://www.madisonsfoundation.org

Abetalipoproteinemia Collaboration Foundation
P.O. Box 8293
Cincinnati, OH 45208
Phone: (513) 557-3808
Fax: (513) 533-3947
Email: shelly.rudnick@abetalipoproteinemia.org
Web: http://www.abetalipoproteinemia.org

A Cure For Bassen Kornzweig Foundation
902 North Richmond 1st Floor
Chicago, IL 60622
Phone: (773) 486-9247
Email: info@bassenkornzweigfoundation.org
Web: http://www.bassenkornzweigfoundation.org