Abetalipoproteinemia
Microsomal Triglyceride Transfer Protein Deficiency , Acanthocytosis, Bassen-Kornzweig Syndrome , MTP Deficiency
Overview
Type of disease: Rare Condition or Disease
Abetalipoproteinemia is a disease in which a person is unable to fully absorb dietary fats, cholesterol and fat-soluble vitamins. Signs and symptoms appear in the first few months of life and can include failure to gain weight and grow at the expected rate (failure to thrive); diarrhea; acanthocytosis; and stool abnormalities. Other features of this disorder may develop later in childhood and often impair the function of the nervous system, potentially causing poor muscle coordination, ataxia, and an eye disorder called retinitis pigmentosa. Abetalipoproteinemia is usually caused by mutations in the MTTP gene and is inherited in an autosomal recessive manner. Treatment may include dietary modification and various dietary supplements. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.
Medical Resources
- Genetic & Rare Diseases Information Center (GARD) GARD provides the public with access to current, reliable, and easy-to-understand information about rare or genetic diseases in English or Spanish.
Support Organizations
- Retina UK General Support Organization
- PID UK General Support Organization
- Tracheo-Oesophageal Fistula Support General Support Organization