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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; ARSA Deficiency; 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; Metachromatic Leukodystrophy, Adult-Type; Metachromatic Leukodystrophy, Infant; Metachromatic Leukodystrophy, Infant-Type; Metachromatic Leukodystrophy, Juvenile; Metachromatic Leukodystrophy, Juvenile-Type; Metachromatic Leukodystrophy, Late Infantile; Metachromatic Leukoencephalopathy; ARSA Deficiencies; Adult Metachromatic Leukodystrophies; Adult Metachromatic Leukodystrophy; Adult-Type Metachromatic Leukodystrophies; Adult-Type Metachromatic Leukodystrophy; Arylsulfatase A Deficiencies; Cerebroside Sulfatase Deficiencies; Deficiencies, ARSA; Deficiencies, Arylsulfatase A; Deficiencies, Cerebroside Sulfatase; Deficiency, ARSA; Deficiency, Arylsulfatase A; Deficiency, Cerebroside Sulfatase; Infant Metachromatic Leukodystrophies; Infant Metachromatic Leukodystrophy; Infant-Type Metachromatic Leukodystrophies; Infant-Type Metachromatic Leukodystrophy; Juvenile Metachromatic Leukodystrophies; Juvenile Metachromatic Leukodystrophy; Juvenile-Type Metachromatic Leukodystrophies; Juvenile-Type Metachromatic Leukodystrophy; Leukodystrophies, Adult Metachromatic; Leukodystrophies, Adult-Type Metachromatic; Leukodystrophies, Juvenile Metachromatic; Leukodystrophies, Juvenile-Type Metachromatic; Leukodystrophies, Metachromatic; Leukodystrophy, Adult Metachromatic; Leukodystrophy, Adult-Type Metachromatic; Leukodystrophy, Juvenile Metachromatic; Leukodystrophy, Juvenile-Type Metachromatic; Leukoencephalopathies, Metachromatic; Leukoencephalopathy, Metachromatic; Lipidosis, Sulfatide; Metachromatic Leukodystrophies; Metachromatic Leukodystrophies, Adult; Metachromatic Leukodystrophies, Adult-Type; Metachromatic Leukodystrophies, Infant; Metachromatic Leukodystrophies, Infant-Type; Metachromatic Leukodystrophies, Juvenile; 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: 699 relevant articles (19 outcomes, 49 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

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

Experts

1. Gieselmann, Volkmar: 42 articles (07/2022 - 10/2002)
2. Matzner, Ulrich: 18 articles (01/2021 - 01/2005)
3. Gieselmann, V: 17 articles (02/2010 - 03/2000)
4. Krägeloh-Mann, Ingeborg: 12 articles (03/2022 - 02/2009)
5. Biffi, Alessandra: 11 articles (01/2021 - 04/2004)
6. Wolf, Nicole I: 10 articles (01/2022 - 06/2013)
7. Martino, Sabata: 10 articles (01/2021 - 05/2005)
8. Groeschel, Samuel: 9 articles (07/2022 - 01/2016)
9. Böhringer, Judith: 9 articles (03/2022 - 01/2016)
10. Eckhardt, Matthias: 9 articles (09/2015 - 02/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Metachromatic Leukodystrophy:
1. Cerebroside-Sulfatase (Arylsulfatase A)IBA
2. EnzymesIBA
3. Sulfoglycosphingolipids (Sulfatides)IBA
4. Lysergic Acid Diethylamide (LSD)IBA
5. ArylsulfatasesIBA
6. Sulfates (Sulfates, Inorganic)IBA
7. Proteins (Proteins, Gene)FDA Link
8. SaposinsIBA
9. DNA (Deoxyribonucleic Acid)IBA
01/01/1994 - "The characterization of the mutations causing pseudodeficiency has allowed the detection of the pseudodeficiency allele in the DNA of probands and has thus improved the diagnosis and genetic counselling for metachromatic leukodystrophy."
04/01/1996 - "The presence of vector DNA in the brain 4 months after transplantation suggests a role for gene transfer and stem cell transplantation in the treatment strategies for metachromatic leukodystrophy."
02/01/1997 - "DNA-based diagnosis of arylsulfatase A deficiencies as a supplement to enzyme assay: a case in point."
01/01/1991 - "Therefore confirmation of a diagnosis of metachromatic leukodystrophy and Krabbe disease, as well as accurate identification of carriers, requires additional testing including 14C-sulfatide loading in cultured skin fibroblasts, examination of urine for excretion of undegraded lipids, examination of enzyme levels in additional family members including grandparents, and molecular analysis of DNA samples for known mutations."
01/01/1990 - " The diagnosis of metabolic diseases relies on 1) the determination of the presence of metabolites under normal conditions that are direct substrates of the defective enzyme (e.g., the Gm2 ganglioside in the brain tissue of a patient with Tay-Sachs disease); 2) the determination of the lack or insufficiency of the direct product of the defective enzyme (e.g., aryl sulfatase A in the cells of patients with metachromatic leukodystrophy), hormone (hypothyroidism), or receptor (congenital hypercholesterolemia); 3) determination of substance whose reduction was established by experimentation, but the cause of the decrease is not known (ceruloplasmin in Wilson's disease); and 4) DNA analysis. "
10. Galactose (Galactopyranose)FDA LinkGeneric

Therapies and Procedures

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