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If so, where can i find a karyotype of it?? And where is the problem found?

2006-12-03 06:28:07 · 2 answers · asked by m11y. 5 in Health Diseases & Conditions Other - Diseases

2 answers

Sanfilippo syndrome, or Mucopolysaccharidosis III (MPS-III) is a rare genetic disease.

Genetics of MPS-III MPS-III
type enzyme gene location
MPS-III A heparan N-sulfatase 17q25.3
MPS-III B N-acetyl-alpha-D-glucosaminidase 17q21
MPS-III C acetyl-CoA:alpha-glucosaminide acetyltransferase 8p11-q13
MPS-III D N-acetylglucosamine-G-sulfate sulfatase 12q14

it affects the breakdown of heparan sulfate

2006-12-03 06:39:21 · answer #1 · answered by Mystyria xMYQx 4 · 0 0

Sanfilippo syndrome as stated is an autosomal recessive disease which is part of the mucopolysaccharide storage disease. The problem is these enzymes are found intracellular and help breakdown extracellular substance as previously mentioned above.

2006-12-03 07:40:54 · answer #2 · answered by juno406 4 · 0 0

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