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Health library/Abetalipoproteinemia

Rare metabolic disorders / RARE CONDITION

Abetalipoproteinemia

Also known as: Abetalipoproteinaemia, Abetalipoproteinemia neuropathy, ABL, Acanthocytosis, Apolipoprotein B deficiency, Bassen-Kornzweig disease

Inherited impairment of fat transport interferes with absorption of fats and certain vitamins. Nutritional effects can later involve vision, nerves and coordination.

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What you may notice

Symptoms can overlap with other conditions and vary between people.

  • Poor growth
  • Fatty stools
  • Vision problems
  • Balance difficulties

Understanding care

Clinical care may include specialist nutritional assessment and monitoring of neurological and eye complications. A qualified clinician decides which investigations and options fit the individual situation.

When to seek help

Discuss poor growth or feeding concerns promptly with the specialist team. Inability to maintain intake, repeated vomiting or unusual drowsiness needs urgent assessment, especially in infants.

For severe breathing difficulty, collapse, suspected stroke, or another emergency, call local emergency services immediately. In India, call 112.

Read the medical sources

These sources support the educational article and offer more detail.

Educational reading · Updated 6 October 2026

Prepared from the linked sources. This summary has not had an independent clinician review. A qualified clinician can assess symptoms and explain which information applies to you.

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LITTLE PEOPLE. BIG FEELINGS.

It’s okay to have
a lot of questions.

A doctor visit or an unfamiliar health word can feel scary. You can ask a trusted grown-up to help you understand, one small question at a time.

01

Say how you feel.

“I feel worried” is a good place to start.

02

Ask for simple words.

“Can you explain that in a way I understand?”

03

Bring someone you trust.

A caring adult can help you ask and listen.

For children and their grown-ups. This illustration explains a conversation, not a diagnosis. An adult should seek qualified care for a child who is unwell.

Abetalipoproteinemia — First AID health library