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5C56.02 Metachromatic leukodystrophy

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

Metachromatic leukodystrophy is a neurodegenerative disease characterised by an accumulation of sulfatides (sulphated glycosphingolipids, especially sulfogalactosylceramides or sulfogalactocerebrosides) in the nervous system and kidneys. Three forms of the disease exist: late infantile, juvenile and adult.

synonyms

• Metachromatic leukodystrophy
• Greenfield's disease (metachromatic leukodystrophy)
• Arylsulfatase A deficiency
• Cerebroside sulfatase deficiency
• Late infantile metachromatic leukodystrophy
• Juvenile metachromatic leukodystrophy
• Adult metachromatic leukodystrophy
• Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency
• Metachromatic leukodystrophy due to saposin B deficiency
• Metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency

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