Pathophysiology
The four types of MPS-III are due to specific enzyme deficiencies affecting the breakdown of heparan sulfate, which then builds up in various organs. All four types have autosomal recessive inheritance.
| 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 |
Read more about this topic: Sanfilippo Syndrome
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