drk1980
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A newborn patient has a spastic body tone and is found to have optic atrophy. The newborn subsequently dies. On autopsy it is found that the child had accumulation of galactocerebroside and is diagnosed as having had Krabbe's disease. What enzyme is deficient in this lysosomal enzyme disease?
1. Alpha-galactosidase A
2. Beta-galactosidase
3. Beta-glucocerebrosidase
4. Hexosaminidase A
name each disease!
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| Geroo
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2. Beta-galactosidase
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| mjl1717
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Tay Sac- Hexoaminadase, Gaucher is glucocererodase
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| msyamp
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good going
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| drk1980
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mjl1717, u missed out one!
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| Geroo
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Nieman pick>sphingomylinase
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| robin082006
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this is easy q
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| drk1980
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.....and Alpha-galactosidase A deficiency- Fabrys disease!
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| mjl1717
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Since its too easy for the average or below average guy to take then to give Ill add. metachromic leukodytrophy-sulfatide sulfatase. And in all these lipod storage diseases except Fabry's where its the kidney, the brain is a primary affected organ. Good q drk.!
Edited by mjl1717 on 01/14/06 - 11:46 PM
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| Geroo
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now it's too hard
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| msyamp
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fabry's disease. good continue.
1.what has liver and spleen and skeletal manfestation.?
2.what has only neurologicla symptoms?
3.what has neuro and hepato spleenomegaly?
Edited by msyamp on 01/15/06 - 12:02 AM
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| skyhigh
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1. gaucher's-liver, spleen, erosions of bones
2. tay sachs-psychomotor retardation, death by 2 yrs
3. niemann-pick-microcephaly, severe mental retardation , characteristic foamy macrophages, early death
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