abetalipoproteinemia

MeSH: D000012ORPHA: 14

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

rare genetic disease involving failure of synthesis or assembly of plasma lipoproteins that contain apo-protein B (chylomicrons, VLDL, and LDL); characterized by severe vitamin E deficiency, leading to serious neurological damage

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with abetalipoproteinemia, sourced from HPO and Orphanet clinical annotations.

Abnormality of the nervous systemAcanthocytosisSteatorrheaFat malabsorptionAbnormal circulating apolipoprotein concentrationDecreased circulating vitamin E concentrationProgressive visual lossColor vision defectNyctalopiaAreflexiaFailure to thriveAnemiaReticulocytosisChronic diarrheaHyperbilirubinemiaHypoalbuminemiaHypocholesterolemiaDecreased HDL cholesterol concentrationMyalgiaDecreased LDL cholesterol concentrationReduced circulating vitamin A concentrationAbnormal retinal pigmentationHypotriglyceridemiaDecreased circulating vitamin D concentrationRod-cone dystrophyScotomaOsteopeniaAtaxiaDysarthriaDysmetriaHepatic steatosisPes cavusTalipes equinovarusVomitingGait ataxiaBroad-based gaitHepatomegalyPositive Romberg signUpper motor neuron dysfunctionImpaired vibratory sensationKyphoscoliosisElevated circulating hepatic transaminase concentrationMyopathySteppage gaitBabinski signImpaired distal proprioceptionFundus hypopigmentationProlonged prothrombin timeDistal lower limb muscle weaknessImpaired proprioceptionDecreased erythrocyte sedimentation ratePtosisOphthalmoplegiaBlindnessHypothyroidismKeratoconjunctivitis siccaCirrhosisHepatic fibrosisCongestive heart failureCardiomegalyAbnormal bleedingRespiratory failureCorneal ulceration

Classification & Codes

MeSH Code

D000012

Orphanet Code

ORPHA:14

abetalipoproteinemia

MeSH	`D000012`
Orphanet	`ORPHA:14`
Treatments	0 drug(s)
Symptoms on record	63 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO