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Clinical features

Authoring team

Abetalipoproteinaemia is characterised by:

  • pigmentary retinal degeneration
  • ataxia
  • areflexia
  • steatorrhoea
  • motor tics

The disorder is slowly progressive:

  • initial presentation is often during childhood:
    • failure to thrive
    • steatorrhoea
    • low serum lipid concentrations may be noted
    • acanthocytosis may be noted

  • in adolesence:
    • ataxia
    • intention tremor
    • nystagmus
    • areflexia
    • muscle weakness

  • in adulthood:
    • intelligence is usually normal
    • there may be emotional lability
    • verbal and motor tics may develop which resemble Tourette's syndrome
    • a late manifestation is retinitis pigmentosa

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