En autosomalt recessiv ämnesomsättningssjukdom orsakad av brist på arylsulfatas A (cerebrosidsulfatas), vilken leder till ansamling av cerebrosidsulfat (sulfoglykosfingolipider) i lysosomerna i centrala nervsystemet och andra organ. Till de patologiska dragen hör diffus myelinförlust och metakromatisk färgning av kornen i många celltyper, som t ex gliacellerna. Det finns ett flertal allele- och icke-alleleformer med ett antal olika neurologiska symtom.
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.
Juvenil metakromatisk leukodystrofi — Greenfields sjukdom — Arylsulfatas A-brist — ARSA-brist
Leukodystrophies, Metachromatic — Metachromatic Leukodystrophies — Cerebroside Sulphatase Deficiency Disease — Metachromatic Leukodystrophy — Metachromatic Leukoencephalopathy — Leukoencephalopathies, Metachromatic — Leukoencephalopathy, Metachromatic — Metachromatic Leukoencephalopathies — Cerebral sclerosis, Diffuse, Metachromatic Form — Arylsulfatase A Deficiency Disease — Sulfatide Lipidosis — Lipidosis, Sulfatide — Leukodystrophy, Metachromatic, Adult — Metachromatic Leukodystrophy, Adult — Adult Metachromatic Leukodystrophies — Adult Metachromatic Leukodystrophy — Leukodystrophies, Adult Metachromatic — Leukodystrophy, Adult Metachromatic — Metachromatic Leukodystrophies, Adult — Metachromatic Leukodystrophy, Adult-Type — Adult-Type Metachromatic Leukodystrophies — Adult-Type Metachromatic Leukodystrophy — Leukodystrophies, Adult-Type Metachromatic — Leukodystrophy, Adult-Type Metachromatic — Metachromatic Leukodystrophies, Adult-Type — Metachromatic Leukodystrophy, Adult Type — Metachromatic Leukodystrophy, Infant — Infant Metachromatic Leukodystrophies — Infant Metachromatic Leukodystrophy — Metachromatic Leukodystrophies, Infant — Greenfield's Disease — Metachromatic Leukodystrophy, Late Infantile — Metachromatic Leukodystrophy, Infant-Type — Infant-Type Metachromatic Leukodystrophies — Infant-Type Metachromatic Leukodystrophy — Metachromatic Leukodystrophies, Infant-Type — Metachromatic Leukodystrophy, Infant Type — Greenfield Disease — Arylsulfatase A Deficiency — Arylsulfatase A Deficiencies — Deficiencies, Arylsulfatase A — Deficiency, Arylsulfatase A — ARSA Deficiency — ARSA Deficiencies — Deficiencies, ARSA — Deficiency, ARSA — Cerebroside Sulfatase Deficiency — Cerebroside Sulfatase Deficiencies — Deficiencies, Cerebroside Sulfatase — Deficiency, Cerebroside Sulfatase — Sulfatase Deficiencies, Cerebroside — Sulfatase Deficiency, Cerebroside — Leukodystrophy, Metachromatic, Juvenile — Metachromatic Leukodystrophy, Juvenile — Juvenile Metachromatic Leukodystrophies — Juvenile Metachromatic Leukodystrophy — Leukodystrophies, Juvenile Metachromatic — Leukodystrophy, Juvenile Metachromatic — Metachromatic Leukodystrophies, Juvenile — Metachromatic Leukodystrophy, Juvenile-Type — Juvenile-Type Metachromatic Leukodystrophies — Juvenile-Type Metachromatic Leukodystrophy — Leukodystrophies, Juvenile-Type Metachromatic — Leukodystrophy, Juvenile-Type Metachromatic — Metachromatic Leukodystrophies, Juvenile-Type — Metachromatic Leukodystrophy, Juvenile Type