Table of MPS and Related Diseases

The following is a summary of some of the Lysosomal Storage Diseases (LSD) and availability of therapies.  This table is adapted from the LDA newsletter dated August 2002 and the full version can be found on the website of Lysosomal Diseases Australia.

Clicking on any of the hyperlinks will either take you to a page containing further information on the disease on this site, or if such information is not available on this site, will take you to a different website specifically addressing that particularly disease or condition.  Those websites are not related to this site and no responsibility is taken for the content of those sites or anything related to use of those sites.

DISEASES (in alphabetical order) CLINICAL PHENOTYPE ENZYNE DEFICIENCY CHROMOSOME LOCATION BONE MARRO TRANSPLANTATION ANIMAL MODEL HUMAN ERT AUSTRALIAN PREVALENCE CARRIER FREQUENCY

Mucolipidosis type I

Sialidosis types I and II

Neuaminidase

6p21.3

1 in 1027

Mucolipidosis types II and III

I-Cell Disease 

Pseudo-Hurler Polydystrophy

Phosphotransferase

4q.21-23

Benefit reported for one ML II patient

Cat 1 in 285

Mucolipidosis type IIIC

Pseudo-Hurler Polydystrophy

Phosphotransferase y-subunit

16p

Mucolipidosis type IV

 

Unknown

19p13.2-p13.3

Mucopolysaccharidosis type I

Hurler Syndrome

Scheie Syndrome

Hurler-Scheie Syndrome

a-L-Iduronidase

4p16.3

May benefit presymptomatic patients

Cat, Dog, Mouse

Trials in progress

1 in 88,000

1 in 148

Mucopolysaccharidosis type II

Hunter Syndrome

Iduronate-2-sulphatase

Xq27--28

May benefit presymptomatic patients

Mouse, Dog

Trials in progress

1 in 136,000

1 in 136,000

Mucopolysaccharidosis type IIIA

Sanfilippo Syndrome A

Heparan-N-sulphatase

17q25.3

Not helpful in symptomatic patients

Mouse, Dog

1 in 114,000

1 in 169

Mucopolysaccharidosis type IIIB

Sanfilippo Syndrome B

a-N-Acetylglucosaminidase

17q21

Not helpful in symptomatic patients

Mouse, Emu

1 in 211,000

1 in 230

Mucopolysaccharidosis type IIIC

Sanfilippo Syndrome C

AcetylCoA:N-acetyltransferase

unknown

Not helpful in symptomatic patients

1 in 1,407,000

1 in 593

Mucopolysaccharidosis type IIID

Sanfilippo Syndrome D

N-Acetylglucosamine 6-sulphatase

12q14

Not helpful in symptomatic patients

Goat

1 in 1,056,000

1 in 514

Mucopolysaccharidosis type IVA

Morquio Syndrome

Galactose 6-sulphatase

16q24.3

Not helpful

1 in 169,000

1 in 206

Mucopolysaccharidosis type IVB

Morquio Syndrome

b-Galactosidase

3p21-3pter

Not helpful

 

Mucopolysaccharidosis type VI

Maroteaux-Lamy Syndrome

N-Acetylglucosamine 4-sulphatase

5q11-13

 

May benefit

 

Cat, Rat, Dog, Mouse

Trials in progress

1 in 235,000

1 in 242

Mucopolysaccharidosis type VII

Sly Syndrome

b-Glucuronidase

7q21.1.11

Dog, Mouse, Cat

1 in 2,111,000

1 in 726

 Mucopolysaccharidosis type IX

 

hyaluronoglucosaminidase-1 3p21.3-p21.2

RELATED DISEASES (in alphabetical order)

CLINICAL PHENOTYPE

ENZYME DEFICIENCY

CHROMOSOME LOCATION

BONE MARROW TRANSPLANTATION

ANIMAL MODEL

HUMAN ERT

AUSTRALIAN PREVALENCE

CARRIER FREQUENCY

Cholesterol ester storage disease

Wolman disease

Acid lipase

10q24-25

1 in 528,000

1 in 363

Fabry disease

Fabry disease

a-Galactosidase A

Xq22

Mouse

Europe, in clinical practice

1 in 117,000

1 in 117,000

Farber Lipogranulomatosis

Farber disease

Acid ceramidase

8p21.3-p22

Not helpful in severe forms

Fucosidosis

a-L-Fucosidase

1p34

Benefit in dog model

Dog

>1 in 2,000,000

Galatosialidosis types I and  II

Protective protein

20q13.1

Sheep

Gaucher disease types I, II and III

Gaucher disease

Glucocerebrosidase (b-glucosidase)

1q21

May benefit in type I; uncertain other types

Mouse

Type I in clinical practice; trial in Type III in progress

1 in 57,000

1 in 119

Globoid cell leucodystrophy

Krabbe disease

Glactorcerebrosidase

14q31

May benefit presymptomatic patients

Mouse, Sheep, Dog, Monkey

1 in 201,000

1 in 188

Glycogen storage disease II

Pompe disease

a-Glucosidase

17q25.2-25.3

Not helpful

Dog, Cattle, Quail

Trials in progress

1 in 146,000

1 in 191

GMI - Gangliosidosis types I, II and III

b-Galactosidase

3q21.3pter

No benefit in dog

Cat, Dog, Sheep, Cattle

1 in 384,000

1 in 310

GM2 - Gangliosidosis type I

Tay Sachs disease

b-Hexosaminidase A

15q23-24

No benefit

Mouse

1 in 201,000

1 in 224

GM2 - Gangliosidosis type II

Sandhoff disease

b-Hexosaminidase A & B

5q13

No benefit

Mouse

1 in 384,000

1 in 310

GM2 - Gangliosidosis

GM2-activator deficiency

5q32-33

Dog

a-Mannosidosis types I and II

a-D-Mannosidase

19p13.2-q12

Mouse, Cat, Cattle, Guinea pig

1 in 1,056,000

1 in 514

b-Mannosidosis

b-D-Mannosidase

4q.22-q25

Goats, Cattle

Metachromatic leucodystrophy

Arylsulphatase A

22q13.3-qter

May benefit presymptomatic patients

Mouse

1 in 92,000

1 in 152

Metachromatic leucodystrophy

Saposin B

10q2

May benefit presymptomatic patients

RELATED DISEASES (in alphabetical order)

CLINICAL PHENOTYPE

ENZYME DEFICIENCY

CHROMOSOME LOCATION

BONE MARROW TRANSPLANTATION

ANIMAL MODEL

HUMAN ERT

AUSTRALIAN PREVALENCE

CARRIER FREQUENCY

Neuronal Ceroid Lipofuscinosis, CLN1

Batten disease

Palmitoyl protein thieoesterase

1p34

Neuronal Ceroid Lipofuscinosis, CLN2

Batten disease

Tripeptidyl peptidase I

11p15.5

Neuronal Ceroid Lipofuscinosis, CLN3

Vogt-Spielmeyer disease

Protein function not known

16p12.1

Mouse, Dog, Sheep

Neuronal Ceroid Lipofuscinosis, CLN5

Batten disease

Protein function not known

13q22

Neuronal Ceroid Lipofuscinosis, CLN6

Batten disease, late infantile

Protein function not known

15q21-23 Sheep, Mouse

Neuronal Ceroid Lipofuscinosis, CLN8

Northern Epilepsy

Protein function not known

8pter-p23

Mouse

Niemann-Pick disease types A and B

Niemann-Pick disease

Acid sphingomyelinase

11p15.1-p15.4

Not helpful for type A

Mouse

Trials planned for B

1 in 248,000 1 in 249

Niemann-Pick disease type C1

Niemann-Pick disease

Cholesterol trafficking

18q11-12

Cat, Mouse

1 in 211,000

1 in 230

Niemann-Pick disease type C2

Niemann-Pick disease

Cholesterol trafficking

unknown

Schindler disease types I and II

Schlinder disease

a-Galactosidase B

22q13.1-13.2

 

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