drpkaur
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let's start with mucopolysaccharidoses,,,..plz put your input...
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| suv
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2 types hurlers and hunters
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| drpkaur
Forum Guru
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which enzyme deficiencies lead to hurler's and hunter's syndrome?
what are the clinical manifestations of each disease?
well there are 4 types of mucopolysaccharidoses,two of them you have mentioned and here are the other two-SLY and SANFILLIPO syndromes.
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| suv
Forum Elite
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deficiency of alfa -l-iduronidase in hurlers and iduronate sulfate in hunters
the difference between them is the corneal clouding which is present in hurlers and absent in hunters
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| suv
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also hurlers is an AR disease and hunters is x linked recessive
the substances accumulated arew heparan sulfate and dermatan sulfate
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| blueocean
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Attached Files:
Hurler.doc (29 KB, 15 downloads)
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| drpkaur
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good response...let's go further to glycoproteins....what is important to study regarding glycoproteins,any enzyme deficiency diseases??
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| drpkaur
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one point i also want to add that bone marrow transplants are being successfully used to treat hurler/hunter syndrome becoz the transplanted macrophages produce the sulfatase needed to degrade glycosaminoglycans in the extracellular space.
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| vallia
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Hurler- L iduronidase deficiency acummulation of heparan sulfate, dermatan sulfate
developmental delay, growth in height stops at 4 years, short body stature, progressive mental decline, enlarged tongue, clouded corneea, degeneration of retina, distict facial features ( flat face, depressed nasal bridge, bulging forehead), organomegaly, die before 10.
Hunter, def of iduronate sufatase, milder than Hurler, onset at 3, diagnostic at 20, no corneal clouding, coarse facial features, skeletal irregularitties, progresive hearing loss, intelect not affected
Sanfilippo, def of heparan N sufatase, severe neurological symptoms ( dementia, agresive beaviour, hyperactivity, seizures, inability to sleep)
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| giovanni83
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The fact that hurler is AR and Hunter is X-linked in the test could be like this:
There is a male affected--->choice between the two diseases possible-->is would be Hunter because it manifests in males because it's X-linked!!
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