metachromatic leukodystrophy
Findings
No curated finding names metachromatic leukodystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare lysosomal storage disorder characterized by intralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function.
Definition from the Mondo Disease Ontology (MONDO:0018868), read 2026-09-29. CC BY 4.0.
Features
45 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal circulating enzyme concentration or activityHPOHP:0012379
- Very frequent (80% to 99% of cases)
- Periventricular leukomalaciaHPOHP:0006970
- Very frequent (80% to 99% of cases)
- Abnormality of visual evoked potentialsHPOHP:0000649
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Decreased nerve conduction velocityHPOHP:0000762
- Frequent (30% to 79% of cases)
- Developmental regressionHPOHP:0002376
- Frequent (30% to 79% of cases)
- Floppy infantHPOHP:0008947
- Frequent (30% to 79% of cases)
- Frequent fallsHPOHP:0002359
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Hearing impairmentHPOHP:0000365
- Frequent (30% to 79% of cases)
- Hyperintensity of cerebral white matter on MRIHPOHP:0030890
- Frequent (30% to 79% of cases)
- HyporeflexiaHPOHP:0001265
- Frequent (30% to 79% of cases)
Show the remaining 33
- Increased CSF protein concentrationHPOHP:0002922
- Frequent (30% to 79% of cases)
- Muscle spasmHPOHP:0003394
- Frequent (30% to 79% of cases)
- Muscle weaknessHPOHP:0001324
- Frequent (30% to 79% of cases)
- Peripheral neuropathyHPOHP:0009830
- Frequent (30% to 79% of cases)
- Progressive spasticityHPOHP:0002191
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ARSAHGNC:713
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · Natera · Autosomal recessive · 2022
Where it sits
Other names
2 names
Resolves to: metachromatic leukodystrophy
- Also called
- arylsulfatase A deficiencyMLD