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SB_Genetics (Pediatrics Royal College 2018) > Abetalopoproteinemia > Flashcards

Abetalopoproteinemia Flashcards

1
Q

What is the name of the syndrome?

A

Bassen-Kornzweig syndrome

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2
Q

What are the clinical features?

A
  1. Ataxia
  2. Acanthocytosis
  3. Retinitis pigmentosa
  4. Fat malabsorption
  5. Steatorrhea
  6. FTT
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3
Q

What are the biochemical findings?

A
  1. Decreased serum cholesterol
  2. Decreased serum TG
  3. Absent serum beta-lipoproteins
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SB_Genetics (Pediatrics Royal College 2018) (57 decks)

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