Mulitple Storage Disorder types

[mps2mom]

Mulitple Storage Disorder types:

Mucolipidosis:
A group of inherited storage diseases in which both lipids and substances called mucopolysaccharides accumulate in the tissues of the body.

Mucolipidosis (ML) type, name and enzyme deficiency:
ML I
Muramidase deficiency

ML II
I-cell disease, UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosamine-phosphotransferase

ML III
Pseudo-Hurler polydystrophy, N-acetylglucosamine-1-phosphotransferase

ML IV
Sialolipidosis, mutation in the gene encoding mucolipin-1

Multiple sulfatase deficiency: Deficiency of all lysosomal sulfatases to greater or less degrees (arylsulfatase A less than arylsulfatase B).

Schindler’s disease:Deficiency of α -N-Acetylgalactosaminidase (α-galactosidase B)