Lysosomal Storage

Question 1

Hurler

Answer 1

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

Question 2

Hunter

Answer 2

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

Question 3

Tay-Sachs

Answer 3

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

Question 4

Gauchers

Answer 4

• 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

Question 5

Fabry

Answer 5

• 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

Question 6

Niemann-Pick

Answer 6

• 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

Question 7

I-Cell

Answer 7

• 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

Question 8

Pompe

Answer 8

Glycogen accumulate

Question 9

Leukpdystrophies

Answer 9

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