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Author5 Posts
  #1

Enzyme deficiency metabolic disorder
Skin lesions --- angiokeratomas
HTN
Chronic renal failure
Congestive heart failure
"Only" males affected (putting aside exceptions)

  #2

Fabry´s Disease. Deficiency of a-galactisodase A1 resulting in accumulation of ceramide trihexosidase.

REMEMBER : Of all Lysosomal storage diseases only Tay Sachs and Fabry`s is X linked recessive.


  #3

juanma0 wrote:
Fabry´s Disease. Deficiency of a-galactisodase A1 resulting in accumulation of ceramide trihexosidase.

REMEMBER : Of all Lysosomal storage diseases only Tay Sachs and Fabry`s is X linked recessive.


Bravo!!!!!!!!!
Correct

  #4

the answer's correct but the 2 X linked diseases are Fabry's and Hunter's(deficiency of iduronate sulfatase) and not Tay Sach's.

  #5

Cerebral, you are ABSOLUTELY correct. Thank you for pointing out my huge mistake. Will try not to be so careless in the future.









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