Table of 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.

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DISEASES (in alphabetical order)	CLINICAL PHENOTYPE	ENZYME DEFICIENCY	CHROMOSOME LOCATION	BONE MARROW 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

Table of MPS and Related Diseases