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A. LYSOSOMAL STORAGE DISORDERS |
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1) Disorders of lipid and sphingolipid degradation |
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|
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 |
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| 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 |
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|
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 |
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| Morquio B (MPS IVB) | Galactosamine-6--Sulfatase |
AR
|
variable | normal intelligence | |||||
| 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 |
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|
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 |
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|
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. | |||||||||