Primary care
Recommendation 1
Goal is prevention of secondary comorbidities due to fat and vitamin malabsorption
Abetalipoproteinemia
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
Disease overview
Autosomal recessive condition affecting fat and vitamin absorption by the intestines and liver, leading to very low LDL-cholesterol and malnutrition
Common symptoms
RBC acanthocytosisFat malabsorption leading to diarrheavomitingpoor growthmuscle weaknesspoor night and color visiontremorsmovement difficultiesspeech difficultiesfailure to thrive
When to suspect
Recommendation 1
Genetic testing for mutations in the MTTP gene
How to test
Recommendation 1
Genetic testing for mutations in the MTTP gene
ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.
Treatment
Recommendation 1
Dietary modifications and vitamin supplementation
Further support
Recommendation 1
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
Clinical Trials
Sources
No data available
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