Dan Ivanov
Forum Senior
Topics: 14
Posts: 106
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Hi, I'm trying to make a synthesis about most frequent metabolic diseases of Aschenazy Jews. Any help?
Thx
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Dan
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| Anno Domini
Moderator
Topics: 293
Posts: 727
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I know for this:Naph dependent xylitol dehydrogenaze deficiency which cause essential pentosuria.
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| Yulia
Forum Elite
Topics: 19
Posts: 240
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Tay-Sachs is a big one. Carrier frequency is 1:30!!!. Lesch-Nyhan, type 1 Gaucher, Niemann Pick, Canavan diseases. Bloom's Syndrome and Fanconi Anemia are not really metabolic, but are more common in Ashkenazi Jews than in general population...
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| Dan Ivanov
Forum Senior
Topics: 14
Posts: 106
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Excellent Yulia, you are right, also Anno is.
Yulia, tell me more about Canavan disease (shortly, in 2 words). I never heard about that. Txs
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Dan
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| Yulia
Forum Elite
Topics: 19
Posts: 240
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A deficient enzyme, aspartoacylase, results in the accumulation of N-acetylaspartic acid in the brain and subsequent degeneration of the white matter. Mental retardation, seizures, blindness, failure to thrive, dementia, ataxia etc. There are 3 forms - age of onset - neonatal, infantile, juvenile. It's a/recessive. Prenatal Dx available. Treatment- supportive. Patients die.
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| Dan Ivanov
Forum Senior
Topics: 14
Posts: 106
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Yulia, I think you'll score more than 99 :wink:
10x!
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Dan
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