USMLE

  1. I- cell disease defect
    • phosphotranserase acitivity in Golgi apparatus
    • UDP-N-acetylglucosamine-1-phosphotransferase 
    • it phophorelase manose moieties to destine for lysosomes
  2. I-cell disease increase in:
    • acid hydrolase and 
    • glycosylase
  3. Mucolipidosis II
    I-cell disease
  4. Tay-sach disease genetic abnormality
    farmeshift mutation
  5. Tay-sachs disease defect
    Hexosaminidase A activity in lysosome
  6. Niemann-pick defect
    sphingomyelinase activity in the lysosome
  7. Hurler disease defect
    Iduronidase activity in lysosome
  8. Deposition AL-type or ATTR-type amyloid
    • cardiac amyloydosis 
    • most typical restrictive cardiomyopathy
  9. cardiac amyloidosis systemic conditions
    • results from extracellular deposition of amyloid fibrils 
    • Protein-uria/nephrotic syndrome
  10. cardiac amyloidosis cariac manifestation 
    (stiff heart syndrome)
    • palpitation 
    • leg swelling 
    • SOB
    • fatigue
Author
Neda317
ID
283603
Card Set
USMLE
Description
genetic defects and others
Updated