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Disease found: | Abetalipoproteinemia |
Current as of: | Thu Nov 14 2024 |
Disease Overview: | Autosomal recessive condition affecting fat and vitamin absorption by the intestines and liver, leading to very low LDL-cholesterol and malnutrition [more info] |
Signs and Symptoms: | RBC acanthocytosis, Fat malabsorption leading to diarrhea, vomiting, poor growth, muscle weakness, poor night and color vision, tremors, movement difficulties, speech difficulties, failure to thrive [more info] |
Diagnosis: | Genetic testing for mutations in the MTTP gene [more info] |
Treatment: | Dietary modifications and vitamin supplementation [more info] |
Clinical Management: | Goal is prevention of secondary comorbidities due to fat and vitamin malabsorption [more info] |
Referral: | No specific physicians specialize in this condition, often managed by pediatrics and GI. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
Clinical Trials: | Few clinical trials currently recruiting |