Table of Allied Diseases

T a y - S a c h s a n d t h e A l l i e d D i s e a s e s

Disease	Enzyme Defect	OMIM#	Prenatal Diagnosis	Carrier Testing	Inheritance Pattern	Age of Onset	Cognitive Impairment	Possible Therapies	Links

A. LYSOSOMAL STORAGE DISORDERS

1) Disorders of lipid and sphingolipid degradation
GM1 Gangliosidosis	β-Galactosidase-1	230500	Yes	Yes	AR	variable	progressive psychomotor deterioration	gene therapy, stem cell transplantation	www.ntsad.org
Tay-Sachs Disease	β-Hexosaminidase A	272800	Yes	Yes	AR	variable	progressive psychomotor deterioration	gene therapy, enzyme replacement therapy, stem cell transplantation	www.ntsad.org
Tay-Sachs Disease	β-Hexosaminidases A and B	268800	Yes	Yes	AR	variable	progressive psychomotor deterioration	gene therapy, enzyme replacement therapy, stem cell transplantation	www.ntsad.org
GM2 Gangliodisosis, AB variant	GM2 Activator Protein	272750	Yes*	No	AR	infancy	progressive psychomotor deterioration	gene therapy, enzyme replacement therapy, stem cell transplantation	www.ntsad.org
Fabry Disease	∝-Galactosidase A	301500	Yes	Yes	X-linked	adolesence - adulthood	normal intelligence	enzyme replacement therapy	www.fabry.org
Gaucher Disease, Type 1	Glucocerebrosidase	230800	Yes	Yes	AR	variable	normal intelligence	gene therapy, enzyme replacement therapy, bone marrow transplantation	www.gaucherdisease.org, www.gaucherdisease.org.uk
Gaucher Disease, Type II	Glucocerebrosidase	230900	Yes	Yes	AR	infancy	severe	gene therapy	www.gaucherdisease.org, www.gaucherdisease.org.uk
Gaucher Disease, Type III	Glucocerebrosidase	231000	Yes	Yes	AR	childhood	mild	gene therapy, enzyme replacement therapy, bone marrow transplantation	www.gaucherdisease.org, www.gaucherdisease.org.uk
Metachromatic Leukodystrophy	Arylsulfatase A	250100	Yes	Yes	AR	infancy to adulthood	progressive psychomotor deterioration	bone marrow transplantation, enzyme replacement, gene therapy, enzyme stabilization	www.ulf.org, www.MLDFoundation.org
Krabbe Disease	Galactosylceramidase	245200	Yes	Yes	AR	infancy to adulthood	progressive psychomotor deterioration	gene therapy, hematopoietic stem cell and neural stem cell transplantation	www.huntershope.org
Niemann-Pick, Type A	Sphingomyelinase	257200	Yes	Yes	AR	infancy	progressive psychomotor deterioration	bone marrow transplantation, enzyme replacement therapy, gene therapy	www.nnpdf.org
Niemann-Pick, Type B	Sphingomyelinase	607616	Yes	Yes	AR	infancy - childhood	none to mild	bone marrow transplantation, enzyme replacement therapy, gene therapy	www.nnpdf.org
Niemann-Pick, Type C1, Type C2	NPC1, HE1 protein (Cholesterol Trafficking Defect)	257220	Yes	Yes	AR	variable	progressive psychomotor deterioration	cholesterol lowering agents, substrate inhibitors	www.parseghian.org
Farber Disease	Acid Ceramidase	228000	Yes	Yes	AR	infancy	variable	bone marrow transplantation, gene therapy	www.ntsad.org
Wolman Disease (Chol.Esther Storage disease)	Lysosomal Acid Lipase	278000	Yes	Yes	AR	neonatal	progressive psychomotor deterioration	HMG-CoA reductase inhibitors	www.ntsad.org

Disease	Enzyme Defect	OMIM#	Prenatal Diagnosis	Carrier Testing	Inheritance Pattern	Age of Onset	Cognitive Impairment	Possible Therapies	Links

2. Disorders of mucopolysaccharide degradation
Hurler Syndrome (MPSI)	L-Iduronidase	252800	Yes	Yes	AR	infancy	severe mental retardation	gene therapy, enzyme replacement therapy, bone marrow transplantation	www.mpssociety.org
Scheie Syndrome (MPS IS)	L-Iduronidase	252800	Yes	Yes	AR	childhood	normal intelligence	gene therapy, enzyme replacement therapy, bone marrow transplantation	www.mpssociety.org
Hurler-Scheie (MPS IH/S)	L-Iduronidase	252800	Yes	Yes	AR	childhood	normal intelligence	gene therapy, enzyme replacement therapy, bone marrow transplantation	www.mpssociety.org
Hunter Syndrome (MPS II)	Iduronate Sulfatase	309900	Yes	Yes	X-linked	infancy - childhood	variable	enzyme replacement therapy, bone marrow transplantation	www.mpssociety.org
Sanfilippo A (MPS IIIA)	Heparan N--Sulfatase	252900	Yes	Yes	AR	infancy - childhood	progressive psychomotor deterioration	gene therapy, enzyme replacement therapy	www.mpssociety.org
Sanfillippo B (MPS IIIB)	N-Acetylglucosaminidase	252920	Yes	Yes	AR	infancy - childhood	progressive psychomotor deterioration	gene therapy, enzyme replacement therapy	www.mpssociety.org
Sanfillippo C (MPS IIIC)	Acetyl-CoA-Glucosaminidase	252930	Yes	Yes	AR	infancy - childhood	progressive psychomotor deterioration	gene therapy, enzyme replacement therapy	www.mpssociety.org
Sanfillipo D (MPS IIID)	Acetyltransferase	252940	Yes	Yes	AR	infancy - childhood	progressive psychomotor deterioration	gene therapy, enzyme replacement therapy	www.mpssociety.org
Morquio A (MPS IVA)	Acetylglucosamine-6-Sulfatase	253000	Yes	Yes	AR	infancy - childhood	normal intelligence	gene therapy, enzyme replacement therapy	www.mpssociety.org , www.Morquio.com
Morquio B (MPS IVB)	Galactosamine-6--Sulfatase	253010	Yes	Yes	AR	variable	normal intelligence	gene therapy, enzyme replacement therapy	www.mpssociety.org , www.Morquio.com
Maroteaux-Lamy (MPS VI)	Arylsulfatase B	253200	Yes	Yes	AR	infancy - childhood	normal intelligence	gene therapy, enzyme replacement therapy	www.mpssociety.org
Sly Syndrome (MPS VII)	Glucuronidase	253220	Yes	Yes	AR	variable	variable	gene therapy, enzyme replacement therapy	www.mpssociety.org

Disease	Enzyme Defect	OMIM#	Prenatal Diagnosis	Carrier Testing	Inheritance Pattern	Age of Onset	Cognitive Impairment	Possible Therapies	Links

3. Disorders of glycoprotein degradation
Alpha Mannosidosis	mannosidase	248500	Yes*	Yes*	AR	infancy - adolesence	mild to severe mental retardation	bone marrow transplantation	www.mannosidosis.org
Beta Mannosidosis	mannosidase	248510	Yes	Yes	AR	childhood - adulthood	mental retardation	bone marrow transplantation	www.mannosidosis.org
Fucosidosis	l-fucosidase	230000	Yes	Yes	AR	infancy - adolesence	mental retardation	bone marrow transplantation	www.mannosidosis.org
Asparylglucosaminuria	Aspartylglycosaminidase	208400	Yes	Yes	AR	childhood	mental retardation	bone marrow transplantation	www.mannosidosis.org
Mucolipidosis I (Sialidosis)	Neuraminidase	256550	Yes	Yes	AR	adolesence	none (type I) mental retardation (type II)	symptomatic and supportive, gene therapy, enzyme replacement therapy	www.mannosidosis.org
Galactosialidosis	Lysosomal protective protein	256540	Yes	Yes	AR	infancy - adulthood	variable	gene therapy, enzyme replacement therapy	www.mannosidosis.org
Schindler Disease	Lysosomal ∝-N-acetylgalactosaminidase	104170	Yes	Yes	AR	infancy	progressive psychomotor deterioration	symptomatic and supportive	www.mannosidosis.org
Schindler Disease Type II/Kanzaki Disease	Lysosomal ∝-N-acetylgalactosaminidase	104170	Yes	Yes	AR	adulthood	mild intellectual impairment		www.mannosidosis.org

Disease	Enzyme Defect	OMIM#	Prenatal Diagnosis	Carrier Testing	Inheritance Pattern	Age of Onset	Cognitive Impairment	Possible Therapies	Links

4. Other lysosomal storage disorders
Santavuori-Haltia Disease (Infantile Neuronal Ceroid Lipofuscinosis Type 1)	Palmitoyl-protein thioesterase	256730	Yes*	Yes*	AR	infancy	progressive psychomotor deterioration	symptomatic and supportive	www.bdsra.org
Jansky-Bielschowsky Disease (Late Infantile Neuronal Ceroid Lipofuscinosis Type 2)	at least 4 subtypes	204500	Yes*	Yes*	AR	late infancy	progressive psychomotor deterioration	symptomatic and supportive	www.bdsra.org
Batten Disease (Juvenile Neuronal Ceroid Lipofuscinosis Type 3)	Lysosomal membrane protein	204200	Yes*	Yes*	AR	childhood	slow intellect loss/psychosis/variable	symptomatic and supportive	www.bdsra.org
Kufs Disease (Neuronal Ceroid Lipofuscinosis Type 4)	Unknown	204300	No*	No*	AR	adulthood	dementia/psychosis	symptomatic and supportive	www.bdsra.org
Von Gierke Disease (Glycogen storage disease type Ia)	Glucose-6-phosphatase	232200	Yes	Yes	AR	infancy	normal intelligence	dietary management	www.agsdus.org
Glycogen storage disease type Ib	Glucose-6-phosphate translocase	232220	Yes	Yes	AR	infancy	normal intelligence	dietary management	www.agsdus.org
Pompe Disease (Glycogen Storage Disease Type II)	Acid maltase	232300	Yes*	Yes*	AR	infancy - adulthood	normal intelligence	enzyme replacement	www.pompe.com, www.amda-pompe.org/
Forbes or Cori Disease (Glycogen storage disease type III)	Debrancher enzyme amylo-1,6 glucosidase	232400	Yes	Yes	AR	early childhood	normal intelligence	dietary management	www.agsdus.org
Mucolipidosis II (I-Cell Disease)	N-acetylglucosamine-1- phosphotransferase	252500	Yes	Yes	AR	infancy	severe psychomotor retardation/developmental delay/mental retardation	symptomatic and supportive	www.mpssociety.org
Mucolipidosis III (Pseudo-Hurler Polydystrophy)	N-acetylglucosamine-1- phosphotransferase	252600	Yes	Yes	AR	childhood	mild to moderate mental retardation/learning disabilities/variable	symptomatic and supportive	www.mpssociety.org
Mucolipdosis IV (Sialolipidosis)	Ganglioside sialidase (neuraminidase)	252650	Yes	Yes	AR	infancy	psychomotor retardation	symptomatic and supportive	www.ml4.org
Cystinosis (adult nonnephropathic type)	Lysosomal cystine transport protein	219750	Yes	Yes	AR	adulthood	normal intelligence	cysteamine therapy	www.cystinosisfoundation.org
Cystinosis (infantile nephropathic type)	Lysosomal cystine transport protein	219800	Yes	Yes	AR	infancy	normal intelligence	cysteamine therapy	www.cystinosisfoundation.org
Cystinosis (juvenile or adolescent nephropathic )	Lysosomal cystine transport protein	219900	Yes	Yes	AR	adolescence	normal intelligence	cysteamine therapy	www.cystinosisfoundation.org
Salla Disease/Infantile Sialic acid storage disorder	Sialic acid transport protein	269920	Yes	Yes	AR	infancy - adulthood	psychomotor retardation/mental retardation	symptomatic and supportive	www.ntsad.org
Saposin Deficiencies	Saposins A, B, C or D	176801	Yes	No	AR	infancy - adulthood	neurological deterioration, variable	symptomatic and supportive	www.ntsad.org

Disease	Enzyme Defect	OMIM#	Prenatal Diagnosis	Carrier Testing	Inheritance Pattern	Age of Onset	Cognitive Impairment	Possible Therapies	Links

B. LEUKODYSTROPHY
Abetalipoproteinemia	Microsomal triglyceride transfer protein/apolipoprotein B	200100	Yes*	Yes*	AR	infancy - adulthood	normal intelligence	tocopherol supplementation and dietary management	www.ntsad.org
Adrenoleukodystrophy	Peroxisomal membrane transfer protein	300100	Yes	Yes	X-Linked	childhood and adolescence	progressive psychomotor deterioration	early bone marrow transplantation,symptomatic and supportive,special diet, Lorenzo's oil	www.ulf.org, www.myelin.org www.FightADL.org www.StopADL.org
Neonatal Adrenoleukodystrophy	Peroxins	202370	Yes	No	AR	neonatal	severe mental retardation	symptomatic and supportive	www.ulf.org
Canavan Disease	Aspartoacylase	271900	Yes	Yes	AR	infancy	progressive psychomotor deterioration	gene therapy, symptomatic and supportive	www.canavanfoundation.org, www.ntsad.org
Cerebrotendinous Xanthromatosis	Sterol-27-hydroxlase	213700	No	Yes	AR	childhood	some have mental retardation while others retain normal intelligence	chenodeoxycholic acid &, HMG CoA reductase inhibitors	www.ulf.org
Pelizaeus Merzbacher Disease	Proteolipid protein	312080	Yes*	Yes*	X-linked	infancy	perhaps progressive cognitive impairment/dementia but need more neurologic findings	symptomatic and supportive	www.pmdfoundation.org
Tangier Disease	ABC1 transporter	205400	No	No	AR	variable	normal intelligence	dietary management	www.ntsad.org
Refum Disease, infantile	Peroxisome membrane protein 3 or Peroxisome biogenesis factor 1	266510	Yes	Yes*	AR	infancy	mental retardation and developmental delay	dietary management,symptomatic and supportive	www.ntsad.org
Refum Disease, classic	Phytanic acid oxidase	266500	Yes	Yes*	AR	childhood - adulthood	normal intelligence	dietary management,symptomatic and supportive	www.ntsad.org


Yes* = if affected family member is found. Note: Reccurance risk after one affected child for all listed diseases = 25% for each pregnancy.
This table reflects information current at the time of printing. Reproductive and/or therapeutic decisions should not be made on the information provided
without first consulting a geneticist or genetic counselor for any updated information.