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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

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