Lysosomal Diseases
Educational Resources

Patient Advocacy Groups also often provide educational information about the disease(s) for which they advocate.

E-mail your suggestions of educational resources to be added to this list, or of modifications needed, to the LDN web site manager. Thank you!

aspartylglucosaminuria

The Genetics Home Reference, A service of the U.S. National Library of Medicine®
Genetics Home Reference for aspartylglucosaminuria

The National Center for Advancing Translational Sciences (NCATS) Genetic and Rare Diseases Information Center (GARD)
Genetic and Rare Diseases Information Center on aspartylglucosaminuria

Orphanet, a portal for information about orphan drugs and rare diseases
Orphanet information about aspartylglucosaminuria

Batten disease

Jump to the neuronal ceroid lipofuscinoses further down on this web page, where there are multiple listings for this very large disease group.

Chanarin-Dorfman syndrome / CDS / ichthyosis /
Dorfman-Chanarin syndrome; DCS

Online Mendelian Inheritance in Man (OMIM) information about Chanarin-Dorfman syndrome

National Organization for Rare Disorders, Inc.
NORD’s information about Chanarin-Dorfman syndrome

cholesteryl ester storage disease / Wolman disease / LAL deficiency

Online Mendelian Inheritance in Man (OMIM) information about cholesteryl ester storage disease

Alexion Pharmaceuticals, Inc.
Alexion Pharmaceuticals, Inc.’s information about LAL deficiency

The Genetics Home Reference, A service of the U.S. National Library of Medicine®
The Genetics Home Reference information about Wolman disease

The National Center for Advancing Translational Sciences (NCATS) Genetic and Rare Diseases Information Center (GARD)
Genetic and Rare Diseases Information Center (GARD) information about Wolman disease

cystinosis

The Genetics Home Reference, A service of the U.S. National Library of Medicine®
The Genetics Home Reference information about cystinosis

Orphanet, a portal for information about orphan drugs and rare diseases
Orphanet’s information about cystinosis

National Center for Biotechnology Information (NCBI), part of the National Institutes of Health (NIH); from its ‘Bookshelf’ section:
NCBI Bookshelf article about cystinosis

Cystinosis Research Foundation
Cystinosis Research Foundation’s information about cystinosis

Danon disease

The Genetics Home Reference, A service of the U.S. National Library of Medicine®
The Genetics Home Reference information about Danon disease

Danondisease.org
Danondisease.org provides a fact-sheet about Danon disease

National Organization for Rare Disorders, Inc.
NORD’s information about Danon disease

Fabry disease

Online Mendelian Inheritance in Man (OMIM) information about Fabry disease

National Organization for Rare Disorders, Inc.
NORD’s information about Fabry disease

The Genetics Home Reference, A service of the U.S. National Library of Medicine®
The Genetics Home Reference information about Fabry disease

Fabry Support & Information Group (FSIG)
Fabry Support & Information Group’s information about Fabry disease

National Center for Biotechnology Information (NCBI), part of the National Institutes of Health (NIH); from its ‘Bookshelf’ section:
NCBI Bookshelf article about Fabry disease

Mount Sinai Hospital in New York City
Mount Sinai Hospital’s patient information about Fabry disease

New England Journal of Medicine, a medical journal
Article: “Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat”
New England Journal of Medicine‘s 2016 article about treatment of Fabry disease

Farber disease

The Genetics Home Reference, A service of the U.S. National Library of Medicine®
The Genetics Home Reference information about Farber disease

National Organization for Rare Disorders, Inc.
NORD’s information about Farber disease

Pediatric Rheumatology, a medical journal
Article: “Farber disease: clinical presentation, pathogenesis and a new approach to treatment” (downloadable .pdf file is available):
Pediatric Rheumatology‘s article about Farber disease

fucosidosis

The Genetics Home Reference, A service of the U.S. National Library of Medicine®
The Genetics Home Reference information about fucosidosis

National Organization for Rare Disorders, Inc.
NORD’s information about fucosidosis

galactosialidosis types I / II

Online Mendelian Inheritance in Man (OMIM) information about galactosialidosis

The Genetics Home Reference, A service of the U.S. National Library of Medicine®
The Genetics Home Reference information about galactosialidosis

The International Society for Mannosidosis and Related Diseases (ISMRD)
ISMRD’s information about galactosialidosis

Orphanet, a portal for information about orphan drugs and rare diseases
Orphanet’s information about galactosialidosis

Gaucher disease / GD

The Genetics Home Reference, A service of the U.S. National Library of Medicine®
The Genetics Home Reference information about Gaucher disease

National Gaucher Foundation provides information about Gaucher disease:
National Gaucher Foundation’s information about Gaucher disease

GM1 gangliosidosis

The Genetics Home Reference, A service of the U.S. National Library of Medicine®
The Genetics Home Reference information about GM1 gangliosidosis

Orphanet, a portal for information about orphan drugs and rare diseases
Orphanet’s information about GM1 gangliosidosis

GM2 gangliosidosis

The Genetics Home Reference, A service of the U.S. National Library of Medicine®
The Genetics Home Reference information about GM2 gangliosidosis

JAMA Neurology, a medical journal
Article: “The natural history of cognitive dysfunction in late-onset GM2 gangliosidosis”
JAMA Neurology‘s article about late-onset GM2 gangliosidosis

Pediatrics, a medical journal
Article: “The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported”
Pediatrics‘ article about juvenile GM2 gangliosidosis

Krabbe disease

The National Institute of Neurological Disorders and Stroke (NINDS)
NINDS’ information about Krabbe disease

Hunter’s Hope Foundation
Hunter’s Hope Foundation’s information about Krabbe disease

Story of Judson Levasheff
Worthwhile introductory information all about Krabbe disease

alpha-mannosidosis

Orphanet Journal of Rare Diseases, a medical journal
Article: “Alpha-mannosidosis” (downloadable .pdf file is available):
Orphanet Journal of Rare Diseases‘ article about alpha-mannosidosis

National Center for Biotechnology Information (NCBI), part of the National Institutes of Health (NIH); from its ‘Bookshelf’ section:
NCBI Bookshelf article about alpha-mannosidosis

The Genetics Home Reference, A service of the U.S. National Library of Medicine®
The Genetics Home Reference information about alpha-mannosidosis

Bone Marrow Transplantation, a medical journal
Article: “Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients”
Bone Marrow Transplantation‘s article about alpha-mannosidosis

beta-mannosidosis

Online Mendelian Inheritance in Man (OMIM) information about beta-mannosidosis

The Genetics Home Reference, A service of the U.S. National Library of Medicine®
The Genetics Home Reference information about beta-mannosidosis

Orphanet, a portal for information about orphan drugs and rare diseases
Orphanet’s information about beta-mannosidosis

metachromatic leukodystrophy / MLD

The Genetics Home Reference, A service of the U.S. National Library of Medicine®
The Genetics Home Reference information about metachromatic leukodystrophy

MedlinePlus Medical Encyclopedia, A service of the U.S. National Library of Medicine®
MedlinePlus Medical Encyclopedia information about metachromatic leukodystrophy

mucolipidosis I / ML I / sialidosis

The Genetics Home Reference, A service of the U.S. National Library of Medicine®
The Genetics Home Reference information about ML I / sialidosis

Pub Med Central, A service of the U.S. National Library of Medicine®
American Journal of Human Genetics, a medical journal
Article: “Sialidosis: a review of human neuraminidase deficiency”
American Journal of Human Genetics‘ article about ML I / sialidosis

mucolipidosis II / ML II / I-cell disease / Leroy disease

National Organization for Rare Disorders, Inc.
NORD’s information about ML II / I-cell disease

The International Advocate for Glycoprotein Storage Diseases (ISMRD)
ISMRD’s information about ML II / I-cell disease

mucolipidosis III / ML III / pseudo-Hurler polydystrophy

Online Mendelian Inheritance in Man (OMIM) information about ML III / pseudo-Hurler polydystrophy

The International Advocate for Glycoprotein Storage Diseases (SMRD)
ISMRD’s information about ML III / pseudo-Hurler polydystrophy

PubMed Central, A service of the U.S. National Library of Medicine®
Journal of Clinical Investigation, a medical journal
Article: “The missing link in lysosomal enzyme targeting”
(Downloadable .pdf file is available):
Journal of Clinical Investigation‘s article about ML III / pseudo-Hurler polydystrophy

mucolipidosis IV (ML4)

Online Mendelian Inheritance in Man (OMIM) information about mucolipidosis IV

The Genetics Home Reference, A service of the U.S. National Library of Medicine®
The Genetics Home Reference information about mucolipidosis IV

National Center for Biotechnology Information (NCBI), part of the National Institutes of Health (NIH); from its ‘Bookshelf’ section
NCBI Bookshelf article about mucolipidosis IV

Pub Med Central, A service of the U.S. National Library of Medicine®
Molecular Genetics and Metabolism, a medical journal
Article: “Mucolipidosis type IV: an update”
Molecular Genetics and Metabolism‘s article about mucolipidosis IV

mucopolysaccharidosis type IH / MPS IH / Hurler syndrome

Sanofi Genzyme
Sanofi Genzyme information pages about Hurler syndrome / MPS IH

Orphanet, a portal for information about orphan drugs and rare diseases
Orphanet’s information about Hurler syndrome / MPS IH

The Society for Mucopolysaccharide Diseases (UK)
The MPS Society of the UK’s information about all the MPS I types. Excellent downloadable booklet (.pdf file) is available on this page.

mucopolysaccharidosis type IHS / MPS IHS / Hurler-Scheie syndrome

Online Mendelian Inheritance in Man (OMIM) information about MPS IHS / Hurler-Scheie syndrome

National Organization for Rare Disorders, Inc.
NORD’s information about all types of MPS I

mucopolysaccharidosis type IS / MPS IS / Scheie syndrome

MedlinePlus Medical Encyclopedia, A service of the U.S. National Library of Medicine®
MedlinePlus Medical Encyclopedia information about MPS IS / Scheie syndrome

The Genetics Home Reference, A service of the U.S. National Library of Medicine®
The Genetics Home Reference information about MPS IS / Scheie syndrome

The National Institute of Neurological Disorders and Stroke (NINDS)
NINDS’ information about MPS IS / Scheie syndrome

mucopolysaccharidosis type II / MPS II / Hunter syndrome

Online Mendelian Inheritance in Man (OMIM) information about MPS II / Hunter syndrome

National Organization for Rare Disorders, Inc.
NORD’s information about MPS II / Hunter syndrome

Pediatrics, a medical journal
Article: “Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome)”
(downloadable .pdf file is available):
Pediatrics‘ article about MPS II / Hunter syndrome

mucopolysaccharidosis type IIIA / MPS IIIA / Sanfilippo syndrome type A

Online Mendelian Inheritance in Man (OMIM) information about MPS IIIA / Sanfilippo syndrome type A

MedlinePlus Medical Encyclopedia, A service of the U.S. National Library of Medicine®
MedlinePlus Medical Encyclopedia information about MPS IIIA / Sanfilippo syndrome type A

The Swedish Information Centre for Rare Diseases
The Swedish Information Centre for Rare Diseases information about all types of MPS III / Sanfilippo syndrome

mucopolysaccharidosis type IIIC / MPS IIIC / Sanfilippo syndrome type C

Online Mendelian Inheritance in Man (OMIM) information about MPS IIIC / Sanfilippo syndrome type C

Acta Paediatrica, a medical journal
Article: “Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder” (Downloadable .pdf file is available):
Acta Paediatrica‘s article about MPS IIIC / Sanfilippo syndrome type C

mucopolysaccharidosis type IIID / MPS IIID / Sanfilippo syndrome type D

Online Mendelian Inheritance in Man (OMIM) information about MPS IIID / Sanfilippo syndrome type D

Journal of Medical Genetics, a medical journal
Article: “Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene”
(Downloadable .pdf file is available):
Journal of Medical Genetics‘ article about MPS IIID / Sanfilippo syndrome type D

mucopolysaccharidosis IVA / MPS IVA / Morquio syndrome type A

Online Mendelian Inheritance in Man (OMIM) information about MPS IVA / Morquio syndrome type A

MedlinePlus Medical Encyclopedia, A service of the U.S. National Library of Medicine®
MedlinePlus Medical Encyclopedia article about Morquio syndrome types A and B

mucopolysaccharidosis IVB / MPS IVB / Morquio syndrome type B

Online Mendelian Inheritance in Man (OMIM) information about MPS IVB / Morquio syndrome type B

PubMed Central
Biochimica et Biophysica acta, a medical journal
Article: “GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings”
Biochimica et Biophysica acta‘s article about Morquio syndrome type B and its relationship to GM1 gangliosidosis

mucopolysaccharidosis type VI / MPS VI / Maroteaux-Lamy syndrome

Online Mendelian Inheritance in Man (OMIM) information about MPS VI / Maroteaux-Lamy syndrome

The Genetics Home Reference, A service of the U.S. National Library of Medicine®
The Genetics Home Reference information about MPS VI / Maroteaux-Lamy syndrome

National Organization for Rare Disorders, Inc.
NORD’s information about MPS VI / Maroteaux-Lamy syndrome

Orphanet Journal of Rare Diseases, a medical journal
Article: “Mucopolysaccharidosis VI”
Orphanet Journal of Rare Diseases‘s article about MPS VI / Maroteaux-Lamy syndrome

JAMA Pediatrics, a medical journal
Article: “Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)”
JAMA Pediatrics‘s article about MPS VI / Maroteaux-Lamy syndrome

mucopolysaccharidosis type VII / MPS VII / Sly syndrome

Online Mendelian Inheritance in Man (OMIM) information about MPS VII / Sly syndrome

The Genetics Home Reference, A service of the U.S. National Library of Medicine®
The Genetics Home Reference information about MPS VII / Sly syndrome

National Organization for Rare Disorders, Inc.
NORD’s information about MPS VII / Sly syndrome

mucopolysaccharidosis type IX / MPS IX / Natowicz syndrome /
hyaluronidase deficiency

New England Journal of Medicine, a medical journal
Article: “Clinical and biochemical manifestations of hyaluronidase deficiency”
New England Journal of Medicine‘s article about MPS IX

juvenile neuronal ceroid lipofuscinosis / Batten disease / JNCL /
NCL / CLN3

Online Mendelian Inheritance in Man (OMIM) information about CLN3 / JNCL

The Genetics Home Reference, A service of the U.S. National Library of Medicine®
The Genetics Home Reference information about CLN3 / JNCL

The National Institute of Neurological Disorders and Stroke (NINDS)
NINDS’ information about various types of neuronal ceroid lipofuscinosis

Batten Disease Support & Research Association
The BDSRA’s summary information about the neuronal ceroid lipofuscinoses (NCLs), including a table-summary of the new classification system for the NCLs

Orphanet Journal of Rare Diseases, a medical journal
Article: “Moving towards effective therapeutic strategies for neuronal ceroid lipofuscinosis
Or visit PubMed and search for PMC4833901.

United States Social Security Administration
Information from the Social Security Administration about the NCLs, that it uses in relation to determining benefits

infantile neuronal ceroid lipofuscinosis / Santavuori-Haltia disease / INCL / CLN1

Online Mendelian Inheritance in Man (OMIM) information about INCL / CLN1

National Organization for Rare Disorders, Inc.
NORD’s information about INCL / CLN1

late infantile neuronal ceroid lipofuscinoses / Jansky-Bielschowsky disease / LINCL / CLN2

Online Mendelian Inheritance in Man (OMIM) information about LINCL / CLN2

Orphanet, a portal for information about orphan drugs and rare diseases
Orphanet’s information about LINCL / CLN2

adult neuronal ceroid lipofuscinosis type A and type B / Kufs disease / Parry disease / ANCL

Online Mendelian Inheritance in Man (OMIM) information about ANCL

The Genetics Home Reference, A service of the U.S. National Library of Medicine®
The Genetics Home Reference information about ANCL

United States Social Security Administration
Information from the Social Security Administration about ANCL, that it uses in relation to determining benefits

National Organization for Rare Disorders, Inc.
NORD’s information about ANCL

PLOS One (Public Library of Science One), a medical journal
Article: “Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families”
PLOS One‘s article about ANCL

northern epilepsy / EPMR / CLN8

Online Mendelian Inheritance in Man (OMIM) information about CLN8

Pub Med Central, A service of the U.S. National Library of Medicine®
Journal of Medical Genetics, a medical journal
Article: “Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration”
Journal of Medical Genetics‘s article about CLN8

Niemann-Pick disease types C1 and C2 (NPC)

National Niemann-Pick Disease Foundation, Inc.
The National Niemann-Pick Disease Foundation’s information about NPC

National Center for Biotechnology Information (NCBI), part of the National Institutes of Health (NIH); from its ‘Bookshelf’ section
NCBI Bookshelf article about NPC

Niemann-Pick disease type A (NPA) and type B (NPB) / ASMD /
acid sphingomyelinase deficiency

The Genetics Home Reference, A service of the U.S. National Library of Medicine®
The Genetics Home Reference article about NPA and NPB

Mount Sinai Hospital, disease information page
Mount Sinai Hospital’s information about all types of Niemann-Pick disease

National Niemann-Pick Disease Foundation, Inc.
National Niemann-Pick Disease Foundation’s information about NPA and NPB

The National Institute of Neurological Disorders and Stroke (NINDS)
NINDS’ information about all types of Niemann-Pick disease

Pompe disease / acid maltase deficiency /
glycogen storage disease II (GSD II)

Online Mendelian Inheritance in Man (OMIM) information about Pompe disease

The National Institute of Neurological Disorders and Stroke (NINDS)
NINDS’ information about Pompe disease

The Genetics Home Reference, A service of the U.S. National Library of Medicine®
The Genetics Home Reference information about Pompe disease

pycnodysostosis

Online Mendelian Inheritance in Man (OMIM) information about pycnodysostosis

National Organization for Rare Disorders, Inc.
NORD’s information about pycnodysostosis

Orphanet, a portal for information about orphan drugs and rare diseases
Orphanet’s information about pycnodysostosis

Schindler disease / NAGA deficiency

The International Advocate for Glycoprotein Storage Diseases (ISMRD)
ISMRD’s information about Schindler disease

Orphanet, a portal for information about orphan drugs and rare diseases
Orphanet’s information about Schindler disease

sialuria / Salla disease

Online Mendelian Inheritance in Man (OMIM) information about sialuria

The Genetics Home Reference, A service of the U.S. National Library of Medicine®
The Genetics Home Reference information about sialuria / salla disease

National Organization for Rare Disorders, Inc.
NORD’s information about sialuria / salla disease

Tay-Sachs disease / GM2 gangliosidosis, type I

Online Mendelian Inheritance in Man (OMIM) information about Tay-Sachs disease, also known as GM2 gangliosidosis type I

The National Institute of Neurological Disorders and Stroke (NINDS)
NINDS’ information about Tay-Sachs disease

NIH National Human Genome Research Institute
National Human Genome Research Institute information about Tay-Sachs disease

National Organization for Rare Disorders, Inc.
NORD’s information about Tay-Sachs disease

E-mail your suggestions of educational resources to be added to this list, or of modifications needed, to the LDN web site manager. Thank you!


The listing of any external web page on the Lysosomal Disease Network web site does not imply or express any endorsement or guarantee of the information presented on that external web page.