CAN YOU RECOGNIZE IT ??

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CAN YOU RECOGNIZE IT ??

Author

5 Posts

Sea_gull
Forum Elite
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Topics: 32
Posts: 179

08/29/06 - 09:50 PM

#1

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

juanma0
Forum Senior

Topics: 10
Posts: 146

08/29/06 - 10:24 PM

#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.

Sea_gull
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Topics: 32
Posts: 179

08/30/06 - 02:15 PM

#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

cerebral
Forum Newbie

Topics: 6
Posts: 31

08/30/06 - 10:13 PM

#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.

juanma0
Forum Senior

Topics: 10
Posts: 146

08/31/06 - 09:53 AM

#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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