Leukodystrophy, Metachromatic
"Leukodystrophy, Metachromatic" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
MeSH Number(s)
C10.228.140.163.100.362.550
C10.228.140.163.100.435.825.850.500
C10.228.140.695.625.550
C10.228.518.625.550
C10.314.400.550
C16.320.565.189.362.550
C16.320.565.189.435.825.850.500
C16.320.565.398.641.803.925.500
C16.320.565.595.554.825.850.500
C18.452.132.100.362.550
C18.452.132.100.435.825.850.500
C18.452.584.687.803.925.500
C18.452.648.189.362.550
C18.452.648.189.435.825.850.500
C18.452.648.398.641.803.925.500
C18.452.648.595.554.825.850.500
Concept/Terms
Leukodystrophy, Metachromatic- Leukodystrophy, Metachromatic
- Leukodystrophies, Metachromatic
- Metachromatic Leukodystrophies
- Metachromatic Leukodystrophy
- Sulfatide Lipidosis
- Lipidosis, Sulfatide
- Cerebroside Sulphatase Deficiency Disease
- Metachromatic Leukoencephalopathy
- Leukoencephalopathies, Metachromatic
- Leukoencephalopathy, Metachromatic
- Metachromatic Leukoencephalopathies
- Arylsulfatase A Deficiency Disease
- Cerebral sclerosis, Diffuse, Metachromatic Form
Metachromatic Leukodystrophy, Infant- Metachromatic Leukodystrophy, Infant
- Infant Metachromatic Leukodystrophies
- Infant Metachromatic Leukodystrophy
- Metachromatic Leukodystrophies, Infant
- Greenfield's Disease
- Metachromatic Leukodystrophy, Infant-Type
- Infant-Type Metachromatic Leukodystrophies
- Infant-Type Metachromatic Leukodystrophy
- Metachromatic Leukodystrophies, Infant-Type
- Metachromatic Leukodystrophy, Infant Type
- Greenfield Disease
Leukodystrophy, Metachromatic, Adult- Leukodystrophy, Metachromatic, Adult
- Metachromatic Leukodystrophy, Adult-Type
- Adult-Type Metachromatic Leukodystrophies
- Adult-Type Metachromatic Leukodystrophy
- Leukodystrophies, Adult-Type Metachromatic
- Leukodystrophy, Adult-Type Metachromatic
- Metachromatic Leukodystrophies, Adult-Type
- Metachromatic Leukodystrophy, Adult Type
Leukodystrophy, Metachromatic, Juvenile- Leukodystrophy, Metachromatic, Juvenile
- Metachromatic Leukodystrophy, Juvenile-Type
- Juvenile-Type Metachromatic Leukodystrophies
- Juvenile-Type Metachromatic Leukodystrophy
- Leukodystrophies, Juvenile-Type Metachromatic
- Leukodystrophy, Juvenile-Type Metachromatic
- Metachromatic Leukodystrophies, Juvenile-Type
- Metachromatic Leukodystrophy, Juvenile Type
Arylsulfatase A Deficiency- Arylsulfatase A Deficiency
- Arylsulfatase A Deficiencies
- Deficiencies, Arylsulfatase A
- Deficiency, Arylsulfatase A
- Cerebroside Sulfatase Deficiency
- Cerebroside Sulfatase Deficiencies
- Deficiencies, Cerebroside Sulfatase
- Deficiency, Cerebroside Sulfatase
- Sulfatase Deficiencies, Cerebroside
- Sulfatase Deficiency, Cerebroside
Below are MeSH descriptors whose meaning is more general than "Leukodystrophy, Metachromatic".
- Diseases [C]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Brain Diseases, Metabolic [C10.228.140.163]
- Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
- Hereditary Central Nervous System Demyelinating Diseases [C10.228.140.163.100.362]
- Leukodystrophy, Metachromatic [C10.228.140.163.100.362.550]
- Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435]
- Sphingolipidoses [C10.228.140.163.100.435.825]
- Sulfatidosis [C10.228.140.163.100.435.825.850]
- Leukodystrophy, Metachromatic [C10.228.140.163.100.435.825.850.500]
- Leukoencephalopathies [C10.228.140.695]
- Hereditary Central Nervous System Demyelinating Diseases [C10.228.140.695.625]
- Leukodystrophy, Metachromatic [C10.228.140.695.625.550]
- Leukoencephalopathies [C10.228.518]
- Hereditary Central Nervous System Demyelinating Diseases [C10.228.518.625]
- Leukodystrophy, Metachromatic [C10.228.518.625.550]
- Demyelinating Diseases [C10.314]
- Hereditary Central Nervous System Demyelinating Diseases [C10.314.400]
- Leukodystrophy, Metachromatic [C10.314.400.550]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Hereditary Central Nervous System Demyelinating Diseases [C16.320.565.189.362]
- Leukodystrophy, Metachromatic [C16.320.565.189.362.550]
- Lysosomal Storage Diseases, Nervous System [C16.320.565.189.435]
- Sphingolipidoses [C16.320.565.189.435.825]
- Sulfatidosis [C16.320.565.189.435.825.850]
- Leukodystrophy, Metachromatic [C16.320.565.189.435.825.850.500]
- Lipid Metabolism, Inborn Errors [C16.320.565.398]
- Lipidoses [C16.320.565.398.641]
- Sphingolipidoses [C16.320.565.398.641.803]
- Sulfatidosis [C16.320.565.398.641.803.925]
- Leukodystrophy, Metachromatic [C16.320.565.398.641.803.925.500]
- Lysosomal Storage Diseases [C16.320.565.595]
- Lysosomal Storage Diseases, Nervous System [C16.320.565.595.554]
- Sphingolipidoses [C16.320.565.595.554.825]
- Sulfatidosis [C16.320.565.595.554.825.850]
- Leukodystrophy, Metachromatic [C16.320.565.595.554.825.850.500]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Hereditary Central Nervous System Demyelinating Diseases [C18.452.132.100.362]
- Leukodystrophy, Metachromatic [C18.452.132.100.362.550]
- Lysosomal Storage Diseases, Nervous System [C18.452.132.100.435]
- Sphingolipidoses [C18.452.132.100.435.825]
- Sulfatidosis [C18.452.132.100.435.825.850]
- Leukodystrophy, Metachromatic [C18.452.132.100.435.825.850.500]
- Lipid Metabolism Disorders [C18.452.584]
- Lipidoses [C18.452.584.687]
- Sphingolipidoses [C18.452.584.687.803]
- Sulfatidosis [C18.452.584.687.803.925]
- Leukodystrophy, Metachromatic [C18.452.584.687.803.925.500]
- Metabolism, Inborn Errors [C18.452.648]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Hereditary Central Nervous System Demyelinating Diseases [C18.452.648.189.362]
- Leukodystrophy, Metachromatic [C18.452.648.189.362.550]
- Lysosomal Storage Diseases, Nervous System [C18.452.648.189.435]
- Sphingolipidoses [C18.452.648.189.435.825]
- Sulfatidosis [C18.452.648.189.435.825.850]
- Leukodystrophy, Metachromatic [C18.452.648.189.435.825.850.500]
- Lipid Metabolism, Inborn Errors [C18.452.648.398]
- Lipidoses [C18.452.648.398.641]
- Sphingolipidoses [C18.452.648.398.641.803]
- Sulfatidosis [C18.452.648.398.641.803.925]
- Leukodystrophy, Metachromatic [C18.452.648.398.641.803.925.500]
- Lysosomal Storage Diseases [C18.452.648.595]
- Lysosomal Storage Diseases, Nervous System [C18.452.648.595.554]
- Sphingolipidoses [C18.452.648.595.554.825]
- Sulfatidosis [C18.452.648.595.554.825.850]
- Leukodystrophy, Metachromatic [C18.452.648.595.554.825.850.500]
Below are MeSH descriptors whose meaning is more specific than "Leukodystrophy, Metachromatic".
This graph shows the total number of publications written about "Leukodystrophy, Metachromatic" by people in Harvard Catalyst Profiles by year, and whether "Leukodystrophy, Metachromatic" was a major or minor topic of these publication.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2000 | 1 | 0 | 1 |
| 2004 | 2 | 0 | 2 |
| 2006 | 2 | 0 | 2 |
| 2007 | 1 | 1 | 2 |
| 2008 | 1 | 0 | 1 |
| 2009 | 3 | 1 | 4 |
| 2011 | 2 | 0 | 2 |
| 2013 | 4 | 0 | 4 |
| 2014 | 2 | 0 | 2 |
| 2015 | 2 | 1 | 3 |
| 2016 | 2 | 0 | 2 |
| 2017 | 0 | 1 | 1 |
| 2018 | 1 | 0 | 1 |
| 2019 | 2 | 0 | 2 |
| 2021 | 2 | 1 | 3 |
| 2022 | 2 | 0 | 2 |
| 2024 | 1 | 0 | 1 |
Below are the most recent publications written about "Leukodystrophy, Metachromatic" by people in Profiles.
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Atidarsagene autotemcel for metachromatic leukodystrophy. J Manag Care Spec Pharm. 2024 Feb 03; 30(2):201-205.
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Understanding caregiver descriptions of initial signs and symptoms to improve diagnosis of metachromatic leukodystrophy. Orphanet J Rare Dis. 2022 10 04; 17(1):370.
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Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access. Lancet. 2022 01 22; 399(10322):372-383.
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Retrieval of vector integration sites from cell-free DNA. Nat Med. 2021 08; 27(8):1458-1470.
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Metachromatic leukodystrophy: A single-center longitudinal study of 45 patients. J Inherit Metab Dis. 2021 09; 44(5):1151-1164.
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Toward Reference Intervals of ARSA Activity in the Cerebrospinal Fluid: Implication for the Clinical Practice of Metachromatic Leukodystrophy. J Appl Lab Med. 2021 03 01; 6(2):354-366.
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Gene-Based Approaches to Inherited Neurometabolic Diseases. Hum Gene Ther. 2019 10; 30(10):1222-1235.
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Hematopoietic Stem Cell Transplantation to Treat Leukodystrophies: Clinical Practice Guidelines from the Hunter's Hope Leukodystrophy Care Network. Biol Blood Marrow Transplant. 2019 12; 25(12):e363-e374.
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Metachromatic Leukodystrophy: Too Frequent (Mis)Diagnosis? JAMA Neurol. 2018 08 01; 75(8):1027.
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Intracerebroventricular delivery of hematopoietic progenitors results in rapid and robust engraftment of microglia-like cells. Sci Adv. 2017 12; 3(12):e1701211.