Lysosomal Storage Diseases Flashcards Preview

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Flashcards in Lysosomal Storage Diseases Deck (8)
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1
Q

Fabry disease

A
  • Deficient a-galactosidase A
  • Ceramide trihexoside excess
  • XLR
  • Peripheral neuropathy of hands/feet
  • Angiokeratomas
  • Increased risk of CVD & renal disease
2
Q

Gaucher disease

A

MOST COMMON LSD

  • Deficient Glucocerebrosidase
  • Glucocerebroside excess
  • HSM
  • Pancytopenia
  • Aseptic necrosis of femur/ bone crises
  • Gaucher cells: lipid filled macrophages like tissue paper
  • Tx: recombinant glucocerebrosidease
3
Q

Niemann-Pick disease

A
  • Deficient Sphingomyelinase
  • Sphingomyelin excess
  • Progressive neurodegeneration
  • HSM
  • Cherry-red spot on macula
  • Microcephaly, early death
  • Foam cells
4
Q

Tay-Sachs disease

A
  • Deficient Hexosaminidase A
  • GM2 ganglioside excess
  • Progressive neurodegeneration
  • Cherry red spot on macula
  • Lysosomes with onion skin
  • NO HSM
  • Early death
5
Q

Krabbe disease

A
  • Deficient Galactocerebrosidase
  • Galactocerebroside excess
  • Peripheral neuropathy
  • Developmental delay
  • Optic Atrophy
6
Q

Metachromatic leukodystrophy

A
  • Deficient Arylsulfatase A
  • Cerebroside sulfate excess
  • Central and peripheral demyelination w/ataxia, dementia
7
Q

Hurler syndrome

A
  • Deficient a-L-iduronidase
  • Heparan sulfate/Dermatan Sulfate excess
  • Gargoylism
  • Airway obstruction
  • Corneal clouding
  • HSM
  • AR
8
Q

Hunter syndrome

A
  • Deficient Iduronate sulfatase
  • Heparan sulfate/Dermatan Sulfate excess
  • Mild Hurler + aggression
  • No corneal clouding