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Leading the Fight to treat and cure
Tay-Sachs, Canavan, Sandhoff, GM1 and related diseases

Chart of Allied Diseases

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A. LYSOSOMAL STORAGE DISORDERS

1) Disorders of lipid and sphingolipid degradation

Disease
Enzyme Defect
OMIM#
Inheritance Pattern
Age of Onset
Cognitive Impairment
Links
GM1 Gangliosidosis b-Galactosidase-1
AR
variable progressive psychomotor deterioration  
Tay-Sachs Disease b-Hexosaminidase A
AR
variable progressive psychomotor deterioration  
Sandhoff Disease b-Hexosaminidases A and B
AR
variable progressive psychomotor deterioration  
GM2 Gangliodisosis, AB variant GM2 Activator Protein
AR
infancy progressive psychomotor deterioration  
Fabry Disease 8-Galactosidase A adolesence - adulthood normal intelligence www.fabry.org
Gaucher Disease, Type 1 Glucocerebrosidase
AR
variable normal intelligence www.gaucherdisease.org, www.gaucherdisease.org.uk
Gaucher Disease, Type II Glucocerebrosidase
AR
infancy severe www.gaucherdisease.org, www.gaucherdisease.org.uk
Gaucher Disease, Type III Glucocerebrosidase
AR
childhood mild www.gaucherdisease.org, www.gaucherdisease.org.uk
Metachromatic Leukodystrophy Arylsulfatase A
AR
infancy to adulthood progressive psychomotor deterioration www.ulf.org,
www.MLDFoundation.org
Krabbe Disease Galactosylceramidase
AR
infancy to adulthood progressive psychomotor deterioration www.huntershope.org
Niemann-Pick, Type A Sphingomyelinase
AR
infancy progressive psychomotor deterioration www.nnpdf.org
Niemann-Pick, Type B Sphingomyelinase
AR
infancy - childhood none to mild www.nnpdf.org
Niemann-Pick, Type C1, Type C2 NPC1, HE1 protein (Cholesterol Trafficking Defect)
AR
variable progressive psychomotor deterioration www.parseghian.org
Farber Disease Acid Ceramidase
AR
infancy variable  
Wolman Disease
(Chol.Esther Storage disease)
Lysosomal Acid Lipase
AR
neonatal progressive psychomotor deterioration  
 

2. Disorders of mucopolysaccharide degradation

Disease
Enzyme Defect
OMIM#
Inheritance Pattern
Age of Onset
Cognitive Impairment
Links
Hurler Syndrome (MPSI) L-Iduronidase
AR
infancy severe mental retardation www.mpssociety.org
Scheie Syndrome (MPS IS) L-Iduronidase
AR
childhood normal intelligence www.mpssociety.org
Hurler-Scheie (MPS IH/S) L-Iduronidase
AR
childhood normal intelligence www.mpssociety.org
Hunter Syndrome (MPS II) Iduronate Sulfatase
X-linked
infancy - childhood variable www.mpssociety.org
Sanfilippo A (MPS IIIA) Heparan N--Sulfatase
AR
infancy - childhood progressive psychomotor deterioration www.mpssociety.org
Sanfillippo B (MPS IIIB) N-Acetylglucosaminidase
AR
infancy - childhood progressive psychomotor deterioration www.mpssociety.org
Sanfillippo C (MPS IIIC) Acetyl-CoA-Glucosaminidase
AR
infancy - childhood progressive psychomotor deterioration www.mpssociety.org
Sanfillipo D (MPS IIID) Acetyltransferase
AR
infancy - childhood progressive psychomotor deterioration www.mpssociety.org
Morquio A (MPS IVA) Acetylglucosamine-6-Sulfatase
AR
infancy - childhood normal intelligence www.mpssociety.org,
www.Morquio.com
Morquio B (MPS IVB) Galactosamine-6--Sulfatase
AR
variable normal intelligence

www.mpssociety.org,
www.Morquio.com

Maroteaux-Lamy (MPS VI) Arylsulfatase B
AR
infancy - childhood normal intelligence www.mpssociety.org
Sly Syndrome (MPS VII) Glucuronidase
AR
variable variable www.mpssociety.org
 

3. Disorders of glycoprotein degradation

Disease
Enzyme Defect
OMIM#
Inheritance Pattern
Age of Onset
Cognitive Impairment
Links
Alpha Mannosidosis mannosidase
AR
infancy - adolesence mild to severe mental retardation www.mannosidosis.org
Beta Mannosidosis mannosidase
AR
childhood - adulthood mental retardation www.mannosidosis.org
Fucosidosis l-fucosidase
AR
infancy - adolesence mental retardation www.mannosidosis.org
Asparylglucosaminuria Aspartylglycosaminidase
AR
childhood mental retardation www.mannosidosis.org
Mucolipidosis I (Sialidosis) Neuraminidase
AR
adolesence none (type I) mental retardation (type II) www.mannosidosis.org
Galactosialidosis Lysosomal protective protein
AR
infancy - adulthood variable www.mannosidosis.org
Schindler Disease Lysosomal 8-N-acetylgalactosaminidase
AR
infancy progressive psychomotor deterioration www.mannosidosis.org
Schindler Disease Type II/Kanzaki Disease Lysosomal 8-N-acetylgalactosaminidase
AR
adulthood mild intellectual impairment www.mannosidosis.org
 

4. Other lysosomal storage disorders

Disease
Enzyme Defect
OMIM#
Inheritance Pattern
Age of Onset
Cognitive Impairment
Links
Santavuori-Haltia Disease (Infantile Neuronal Ceroid Lipofuscinosis Type 1) Palmitoyl-protein thioesterase
AR
infancy progressive psychomotor deterioration www.bdsra.org
Jansky-Bielschowsky Disease (Late Infantile Neuronal Ceroid Lipofuscinosis Type 2) at least 4 subtypes
AR
late infancy progressive psychomotor deterioration www.bdsra.org
Batten Disease (Juvenile Neuronal Ceroid Lipofuscinosis Type 3) Lysosomal membrane protein
AR
childhood slow intellect loss/psychosis/variable www.bdsra.org
Kufs Disease (Neuronal Ceroid Lipofuscinosis Type 4) Unknown
AR
adulthood dementia/psychosis www.bdsra.org
Von Gierke Disease (Glycogen storage disease type Ia) Glucose-6-phosphatase
AR
infancy normal intelligence www.agsdus.org
Glycogen storage disease type Ib Glucose-6-phosphate translocase
AR
infancy normal intelligence www.agsdus.org
Pompe Disease (Glycogen Storage Disease Type II) Acid maltase
AR
infancy - adulthood normal intelligence www.pompe.com,
www.amda-pompe.org
Forbes or Cori Disease (Glycogen storage disease type III) Debrancher enzyme amylo-1,6 glucosidase
AR
early childhood normal intelligence www.agsdus.org
Mucolipidosis II (I-Cell Disease) N-acetylglucosamine-1- phosphotransferase
AR
infancy severe psychomotor retardation/developmental delay/mental retardation www.mpssociety.org
Mucolipidosis III (Pseudo-Hurler Polydystrophy) N-acetylglucosamine-1- phosphotransferase
AR
childhood mild to moderate mental retardation/learning disabilities/variable www.mpssociety.org
Mucolipdosis IV (Sialolipidosis) Ganglioside sialidase (neuraminidase)
AR
infancy psychomotor retardation www.ml4.org
Cystinosis (adult nonnephropathic type) Lysosomal cystine transport protein
AR
adulthood normal intelligence www.cystinosisfoundation.org
Cystinosis (infantile nephropathic type) Lysosomal cystine transport protein
AR
infancy normal intelligence www.cystinosisfoundation.org
Cystinosis (juvenile or adolescent nephropathic ) Lysosomal cystine transport protein
AR
adolescence normal intelligence www.cystinosisfoundation.org
Salla Disease/Infantile Sialic acid storage disorder Sialic acid transport protein
AR
infancy - adulthood psychomotor retardation/mental retardation  
Saposin Deficiencies Saposins A, B, C or D
AR
infancy - adulthood neurological deterioration, variable  
 

B. LEUKODYSTROPHY

Disease
Enzyme Defect
OMIM#
Inheritance Pattern
Age of Onset
Cognitive Impairment
Links
Abetalipoproteinemia Microsomal triglyceride transfer protein/apolipoprotein B
AR
infancy - adulthood normal intelligence www.ntsad.org
Adrenoleukodystrophy Peroxisomal membrane transfer protein
X-Linked
childhood and adolescence progressive psychomotor deterioration www.ulf.org, www.myelin.org
Neonatal Adrenoleukodystrophy Peroxins
AR
neonatal severe mental retardation www.ulf.org
Canavan Disease Aspartoacylase
AR
infancy progressive psychomotor deterioration www.canavanfoundation.org, www.ntsad.org
Cerebrotendinous Xanthromatosis Sterol-27-hydroxlase
AR
childhood some have mental retardation while others retain normal intelligence www.ulf.org
Pelizaeus Merzbacher Disease Proteolipid protein
X-linked
infancy perhaps progressive cognitive impairment/dementia but need more neurologic findings www.pmdfoundation.org
Tangier Disease ABC1 transporter
AR
variable normal intelligence www.ntsad.org
Refum Disease, infantile Peroxisome membrane protein 3 or Peroxisome biogenesis factor 1
AR
infancy mental retardation and developmental delay www.ntsad.org
Refum Disease, classic Phytanic acid oxidase
AR
childhood - adulthood normal intelligence 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.

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