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Bassen-Kornzweig Syndrome
Alternate Names : Abetalipoproteinemia, Acanthocytosis, Apolipoprotein B Deficiency
Definition Bassen-Kornzweig syndrome is a rare, inherited disease characterized by the inability to fully absorb dietary fats through the gut. It results in fatty stools, diarrhea, failure to thrive in infancy, and problems with nerves.
Overview, Causes, & Risk Factors
Bassen-Kornzweig syndrome is an autosomal recessive inherited disorder that affects both sexes, but predominantly males (70%). It is due to mutations in one of two genes: apolipoprotein B (APOB) or microsomal triglyceride transfer protein (MTP).
The syndrome causes the body not to make lipoproteins (molecules of fat combined with protein) including low-density lipoproteins (LDL), very-low-density lipoproteins (VLDL), and chylomicrons (small molecules of fat in the blood).
People with this disease are unable to properly digest fat, and have underdeveloped nerves (neuropathy), poor muscle coordination (ataxia), and other nerve disorders.
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• Definition
• Overview, Causes, & Risk Factors
• Symptoms & Signs
• Prevention
• Diagnosis & Tests
• Treatment
• Prognosis
• Complications
• Calling Your Health Care Provider
Topics that might be of interest to you Diseases & Conditions
• Failure to Thrive
Tests & Exams
• CBC
• LDL
• Triglyceride Level
• VLDL
Other Topics
• Blindness
• Cholesterol
• Fat
• Movement - Uncoordinated
• Protein in Diet
• Speech Impairment (Adult)
• Vision Problems
• Vitamin A
• Vitamin D
• Vitamin E
• Vitamin K
Review Date : 8/6/2003
Reviewed By : Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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