Condition
Leukodystrophy, Metachromatic
Neurology
Overview
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.
This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.
Quick facts about Leukodystrophy, Metachromatic
- Topic type
- Condition
- Category
- Neurology
- MeSH classification
- C10.228.140.163.100.362.550|C10.228.140.163.100.435.825.850.500|C10.228.140.695.625.550|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|C18.452.584.563.641.803.925.500|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
Preparing for an appointment about Leukodystrophy, Metachromatic
If you are speaking with a healthcare professional about Leukodystrophy, Metachromatic, it can help to prepare a few details in advance.
- Write down your symptoms and when they started.
- Bring details of any medicines, supplements or previous treatments.
- Ask what tests or assessments may be needed.
- Ask what treatment or management options may be suitable.
- Ask when you should seek urgent medical help or follow-up care.
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Source: Medical Subject Headings (MeSH), produced by the U.S. National Library of Medicine. EuroCareFinder is not endorsed by the National Library of Medicine. MeSH version: 2026.