Abetalipoproteinemia

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This 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

TREATMENT

  • Recommendation 1

    Dietary modifications and vitamin supplementation

PRIMARY CARE

  • Recommendation 1

    Goal is prevention of secondary comorbidities due to fat and vitamin malabsorption

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

Sources

No data available

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