Metachromatic Leukodystrophy (Sulfatide Lipidosis)

An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms.
Also Known As:
Sulfatide Lipidosis; Leukodystrophy, Metachromatic; Arylsulfatase A Deficiency; Cerebral sclerosis, Diffuse, Metachromatic Form; Cerebroside Sulfatase Deficiency; Greenfield Disease; Greenfield's Disease; Leukodystrophy, Metachromatic, Adult; Leukodystrophy, Metachromatic, Juvenile; Metachromatic Leukodystrophy, Adult-Type; Metachromatic Leukodystrophy, Infant; Metachromatic Leukodystrophy, Infant-Type; Metachromatic Leukodystrophy, Juvenile-Type; Metachromatic Leukoencephalopathy; Adult-Type Metachromatic Leukodystrophies; Adult-Type Metachromatic Leukodystrophy; Arylsulfatase A Deficiencies; Cerebroside Sulfatase Deficiencies; Deficiencies, Arylsulfatase A; Deficiencies, Cerebroside Sulfatase; Deficiency, Arylsulfatase A; Deficiency, Cerebroside Sulfatase; Infant Metachromatic Leukodystrophies; Infant Metachromatic Leukodystrophy; Infant-Type Metachromatic Leukodystrophies; Infant-Type Metachromatic Leukodystrophy; Juvenile-Type Metachromatic Leukodystrophies; Juvenile-Type Metachromatic Leukodystrophy; Leukodystrophies, Adult-Type Metachromatic; Leukodystrophies, Juvenile-Type Metachromatic; Leukodystrophies, Metachromatic; Leukodystrophy, Adult-Type Metachromatic; Leukodystrophy, Juvenile-Type Metachromatic; Leukoencephalopathies, Metachromatic; Leukoencephalopathy, Metachromatic; Lipidosis, Sulfatide; Metachromatic Leukodystrophies; Metachromatic Leukodystrophies, Adult-Type; Metachromatic Leukodystrophies, Infant; Metachromatic Leukodystrophies, Infant-Type; Metachromatic Leukodystrophies, Juvenile-Type; Metachromatic Leukodystrophy, Adult Type; Metachromatic Leukodystrophy, Infant Type; Metachromatic Leukodystrophy, Juvenile Type; Metachromatic Leukoencephalopathies; Sulfatase Deficiencies, Cerebroside; Sulfatase Deficiency, Cerebroside; Arylsulfatase A Deficiency Disease; Cerebroside Sulphatase Deficiency Disease
Networked: 428 relevant articles (15 outcomes, 24 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Globoid Cell Leukodystrophy (Krabbe Disease)
2. Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked)
3. Gaucher Disease (Gaucher's Disease)
4. Mucopolysaccharidoses
5. Fucosidosis


1. Gieselmann, Volkmar: 29 articles (09/2015 - 01/2003)
2. Gieselmann, V: 15 articles (02/2010 - 03/2000)
3. Matzner, Ulrich: 13 articles (09/2015 - 01/2005)
4. Eckhardt, Matthias: 8 articles (09/2015 - 06/2006)
5. Fogh, Jens: 8 articles (06/2012 - 05/2005)
6. D'Hooge, Rudi: 7 articles (07/2015 - 09/2007)
7. Lüllmann-Rauch, R: 7 articles (01/2006 - 05/2001)
8. Stroobants, Stijn: 6 articles (07/2015 - 06/2008)
9. Aubourg, Patrick: 6 articles (06/2015 - 01/2006)
10. Matthes, Frank: 6 articles (06/2012 - 09/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Metachromatic Leukodystrophy:
1. Cerebroside-Sulfatase (Arylsulfatase A)IBA
2. Lysergic Acid Diethylamide (LSD)IBA
3. Sulfoglycosphingolipids (Sulfatides)IBA
4. SaposinsIBA
5. DNA (Deoxyribonucleic Acid)IBA
6. Galactose (Galactopyranose)FDA LinkGeneric
7. Complementary DNA (cDNA)IBA
8. SphingosineIBA
9. Complement System Proteins (Complement)IBA
10. ArylsulfatasesIBA

Therapies and Procedures

1. Bone Marrow Transplantation (Transplantation, Bone Marrow)
2. Hematopoietic Stem Cell Transplantation
3. Enzyme Replacement Therapy
4. Immunomodulation
5. Drug Therapy (Chemotherapy)