Metachromatic leukodystrophy

rare

A rare lysosomal storage disorder characterized by intralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function.

Identifiers: MONDO:0018868 Orphanet:512
Part of: Hereditary dementia Hereditary peripheral neuropathy Leukodystrophy Sphingolipidosis
Also known as: arylsulfatase A deficiency · MLD

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Metachromatic leukodystrophy, juvenile form	MONDO:0009591	2	ARSA
Metachromatic leukodystrophy due to saposin B deficiency	MONDO:0009590

Rare disease

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