Fabry disease

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Fabrite → favourite

Gaucher disease

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Because you are crying, you need a tissue paper to wipe tears.

Tay-Sachs disease

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Epidemiology: more common in the Ashkenazi Jewish population

Mnemonic

Any diseases with a hyphen in the name will presents with Cherry-Red Macula.

Niemann-Pick disease

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Sphinger → finger

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World → Galaxy → Gala

Hunter syndrome & Hurler syndrome

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Mnemonic

1. X → X link recessive
2. The gun touches the hunter’s derm → Heparan sulfate, dermatan sulfate.
3. Hunter doesn’t have corneal cloudy → or he couldn’t see targets
4. Hunters are aggressive

• Hurler syndrome
  • Severe developmental delay & intellectual disability
  • Coarse facial features (eg, frontal bossing, broad nose, flat midface)
  • Corneal clouding
  • Hepatosplenomegaly
  • Death at age <10 (cardiac complications)
• Hunter syndrome
  • Milder features than Hurler:
    • (+) Aggressive behavior
    • (−) Corneal clouding
  • Death in adolescence/early adulthood

Metachromatic leukodystrophy

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1. Metapod can’t walk, can’t say, can demyelinate to butterfly

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Tip

Glycogen storage diseases > Pompe disease also affects lysosome.