What is MPS & ML

What Are MPS and Related Diseases? Mucopolysaccharidoses (MPS) and related diseases are genetic lysosomal storage diseases (LSD) caused by the body’s inability to produce specific enzymes. Normally, the body uses enzymes to break down and recycle materials in cells. In individuals with MPS and related diseases, the missing or insufficient enzyme prevents the proper recycling process, resulting in the storage of materials in virtually every cell of the body. jamie As a result, cells do not perform properly and may cause progressive damage throughout the body, including the heart, bones, joints, respiratory system and central nervous system. While the disease may not be apparent at birth, signs and symptoms develop with age as more cells become damaged by the accumulation of cell materials.

Syndrome Name/Common Name Enzyme Deficiency

MPS I H Hurler a-L-Iduronidase
MPS I S Scheie a-L-Iduronidase
MPS I H-S Hurler-Scheie a-L-Iduronidase
MPS II Hunter Iduronate sulfatase
MPS III A Sanfilippo A Heparan N-sulfatase
MPS III B Sanfilippo B a-N-Acetylglucosaminidase
MPS III C Sanfilippo C Acetyl CoA: a-glycosaminide acetyltransferase
MPS III D Sanfilippo D N-Acetylglucosamine 6-sulfatase
MPS IV A Morquio A Galactose 6-sulfatase
MPS IV B Morquio B B-Galactosidase
MPS VI Maroteaux-Lamy(arylsulfatase B) N-Acetylgalactosamine 4-sulfatase
MPS VII Sly B-Glucuronidase
MPS IX Hyaluronidase
ML II I-Cell N-acetylglucosamine-1-phosphotransferase
ML III Psuedo-Hurler polydystrophy N-acetylglucosamine-1-phosphotransferase

To read more details about MPS and ML Disorders please visit the National MPS Society

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