almina
Forum Senior
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Match the folowing the disease -enzyme - accumulating substance:
A. Phenylketonuria
B.Tay-Sachs
C. Niemann-Pick
D.Maple syrup urine disease
E. Lesch-Nyhan syndrome
F. Hunter syndrome
a.sphingomyelinase activity
b.HGPRT
c.hexosaminidase A
d.iduronate sulfatase
e. phenylalanine hydroxylase
f.branched chain keto-acid dehydrogenase complex
1.sphyngomyelin
2.leucine, isoleucine, and valine metabolites
3.mucopolysaccharides
4.uric acid
5.GM2gangliosides
6.phenylpyruvic acid
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| mash
Forum Fanatic
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A e 6
B c 5
C a 1
D f 2
E b 4
F d 3
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| almina
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perfect 
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| kalsam
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Most prevalent in Ashkenazi Jews..????
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| mjl1717
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kalsam answer to your q is Tay Sach and Niemann Pick
almina-good, hi yield, needs to be repetitive, teaching q!
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| kalsam
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mjl..Thanks for the answer..you r right,
but we should also include Type 1 Gauchers disease..I read this while solving Kaplan q bank ..
By the way Type 1 Gauchers dis- compatible with a normal life span and causes hepatosplenomegaly with CNS involvement.
Wereas infantile Type 2 and 3 forms cause more serious disease but are not seen with increased incidence in Askenazi jews.
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| rida
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What enzyme def in Gauchers??
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| mjl1717
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Glucocerebrodase!
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| rida
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In a clinical scenario, given with a cherry red spot, how would you differentiate between tay sachs and neiman pick, as in what other piece of info would be relevant for neiman pick?
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| piter
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hepatosplenomegaly
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| kalsam
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yes..hepatosplenomegaly...
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| rida
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very good!!!
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