Leukodystrophy, Metachromatic

Leukodystrofi, metakromatisk

Svensk definition

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.

Engelsk definition

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.

Svenska synonymer

Metakromatisk leukodystrofi

Engelska synonymer

Leukodystrophies, Metachromatic Metachromatic Leukodystrophies Cerebral sclerosis, Diffuse, Metachromatic Form Sulfatide Lipidosis Lipidosis, Sulfatide Metachromatic Leukodystrophy Metachromatic Leukoencephalopathy Leukoencephalopathies, Metachromatic Leukoencephalopathy, Metachromatic Metachromatic Leukoencephalopathies Arylsulfatase A Deficiency Disease Cerebroside Sulphatase Deficiency Disease Leukodystrophy, Metachromatic, 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, Adult Adult Metachromatic Leukodystrophies Adult Metachromatic Leukodystrophy Leukodystrophies, Adult Metachromatic Leukodystrophy, Adult Metachromatic Metachromatic Leukodystrophies, Adult Metachromatic Leukodystrophy, Infant Infant Metachromatic Leukodystrophies Infant Metachromatic Leukodystrophy Metachromatic Leukodystrophies, Infant Metachromatic Leukodystrophy, Late Infantile Greenfield's Disease Greenfield Disease Metachromatic Leukodystrophy, Infant-Type Infant-Type Metachromatic Leukodystrophies Infant-Type Metachromatic Leukodystrophy Metachromatic Leukodystrophies, Infant-Type Metachromatic Leukodystrophy, Infant Type 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-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 Metachromatic Leukodystrophy, Juvenile Juvenile Metachromatic Leukodystrophies Juvenile Metachromatic Leukodystrophy Leukodystrophies, Juvenile Metachromatic Leukodystrophy, Juvenile Metachromatic Metachromatic Leukodystrophies, Juvenile