Lysosomal Storage Flashcards Preview

Biochem Diseases > Lysosomal Storage > Flashcards

Flashcards in Lysosomal Storage Deck (9)
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1
Q

Hurler

A
  • alpha-Iduronidase def.
  • Sx:
    • corneal clouding
    • coarse facial features
    • short stature
    • developmental delay
    • hepatosplenomegaly
    • restricted joint motility
  • Rx:
    • Fibroblast assay
    • Urinalysis
2
Q

Hunter

A
  • Iduronate sulfatase def.
  • no corneal clouding (“hunter needs eyes to see”)
  • Sx:
    • coarse facial features
    • hepatosplenomegaly
    • mild to mod mental retardation
3
Q

Tay-Sachs

A
  • Hexosamindase A def.,
  • accumulating Ganglioside (GM2)
  • Ashkenazi Jewish population
  • AR
  • Lysosomal swelling leading to onion shaped cell appearance
4
Q

Gauchers

A
  • Beta-Glucosidase, accumulating ceramide
  • Ceramides accumulate
  • Crumpled-paper macrophages
  • Sx:
  • adult form increased risk of long-bone fracture
    • no neuro dmanage
  • Ashkenazi Jewish population
  • Rx: enzyme replacement therapy used
5
Q

Fabry

A
  • alpha-galactosidase def.
  • accumulating Globoside
  • SX:
    • rash effect, bathing-trunk distribution
    • kidney problems
    • peripheral neuropathy (tingling extremities)
  • Rx: Enzyme therapy with some success
  • X-linked
6
Q

Niemann-Pick

A
  • Sphingomyelinase def.,
  • accumulating sphingomyelin
  • Cherry red spot macula
  • foamy cells
  • 2 types
    • Type A: severe infantile, affects mainly neurons
    • Type B: later in childhood, affects mainly liver & splen
7
Q

I-Cell

A
  • Mannose-6-P marker defect & Lysosome trafficking defect
  • High conc. of lysosomal enzymes in blood
  • GAGs & sphingolipids accumulation in lysosomes
  • Intracytoplasmic includions in fibroblasts
  • Sx:
    • similiar to Hurler syndrom but more severe and at an earlier age
    • small orbits
    • proptotic eyes
    • short & broad hands
    • stiffening of hand joints
    • hepatosplenomegaly with umbilical hernia
    • limited extension of hips & knees
8
Q

Pompe

A

Glycogen accumulate

9
Q

Leukpdystrophies

A
  • Demyelinating disease
  • Metachromatic LeukoDystrophy aka arylsulphatase A def
  • Sulfatides accumulation
  • AR
  • Navajo nation prevalence