Diseases

Metachromatic Leukodystrophy

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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 Record

Classification

Broader headings

Related Concepts

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MeSH Record

See Also

MeSH Record

Synonyms

66 entry terms
  • Arylsulfatase A Deficiency Disease
  • Cerebral sclerosis, Diffuse, Metachromatic Form
  • Cerebroside Sulphatase Deficiency Disease
  • Leukodystrophy, Metachromatic
  • Metachromatic Leukoencephalopathy
  • Sulfatide Lipidosis
  • Leukodystrophies, Metachromatic
  • Leukoencephalopathies, Metachromatic
  • Leukoencephalopathy, Metachromatic
  • Lipidosis, Sulfatide
  • Metachromatic Leukodystrophies
  • Metachromatic Leukoencephalopathies
  • ARSA Deficiency
  • Arylsulfatase A Deficiency
  • 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
  • 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
  • Leukodystrophy, Adult Metachromatic
  • Leukodystrophy, Adult-Type Metachromatic
  • Leukodystrophy, Juvenile Metachromatic
  • Leukodystrophy, Juvenile-Type Metachromatic
  • 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
  • Sulfatase Deficiencies, Cerebroside
  • Sulfatase Deficiency, Cerebroside

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

1974

MeSH Hierarchy

Tree Numbers

  1. C10w.228w.140w.163.100.362w.550w
  2. C10w.228w.140w.163.100.435.825w.850w.500w
  3. C10w.228w.140w.695w.625w.550w
  4. C10w.314w.400w.550w
  5. C16w.320w.565w.189.362w.550w
  6. C16w.320w.565w.189.435.825w.850w.500w
  7. C16w.320w.565w.398w.641w.803w.925w.500w
  8. C16w.320w.565w.595w.554.825w.850w.500w
  9. C18.452w.132.100.362w.550w
  10. C18.452w.132.100.435.825w.850w.500w
  11. C18.452w.584w.563w.641w.803w.925w.500w
  12. C18.452w.648w.189.362w.550w
  13. C18.452w.648w.189.435.825w.850w.500w
  14. C18.452w.648w.398w.641w.803w.925w.500w
  15. C18.452w.648w.595w.554.825w.850w.500w

AMA Style

References

  1. National Library of Medicine. Metachromatic Leukodystrophy. Medical Subject Headings (MeSH). 2026. Unique ID D007966. http://id.nlm.nih.gov/mesh/2026/D007966
  2. Metachromatic Leukodystrophy. In: Wikipedia. https://en.wikipedia.org/wiki/Metachromatic_leukodystrophy
  3. Metachromatic Leukodystrophy. In: Wikidata. https://www.wikidata.org/wiki/Q1120682