metachromatic leukodystrophy

English

Noun

metachromatic leukodystrophy (plural metachromatic leukodystrophies)

1. (medicine) Any of a range of genetic metabolic disorders caused by defective genes for arylsulfatase enzymes,
   especially, a deficiency in the enzyme ARSA (arylsulfatase A).
   • 2010, Michael C. Brodsky, Pediatric Neuro-Ophthalmology, Springer, page 478:

     Metachromatic leukodystrophy is an autosomal recessive disorder that is usually caused by mutations in the arylsulfatase A (ARSA) gene on chromosome 22q13.31. […] Several molecular forms of arylsulfatase A exist and may account for the different phenotypes of metachromatic leukodystrophy.

   • 2013, Perry K. Richardson, Scott T. Demarest, “27: Inherited Metabolic Neuropathies”, in Bashar Katirji, Henry J. Kaminski, Robert L. Ruff, editors, Neuromuscular Disorders in Clinical Practice, Springer, page 558:

     The leukodystrophies are lysosomal storage disorders (lipidoses) affecting myelin. The metachromatic leukodystrophies (MLD) are a heterogeneous group of disorders characterized by demyelination in the central and peripheral nervous system and accumulation of galactosyl sulfatide (cerebroside sulfate) in glia, Schwann cells, and macrophages.

   • 2014, Juan M Bilbao, Robert E Schmidt, Biopsy Diagnosis of Peripheral Neuropathy, Springer, page 429:

     The metachromatic leukodystrophies (MLD) are caused by defective activity of the arylsulfatase enzyme system, with a consequent accumulation of sulfatides. The most common variant (Phenotype MIM#250100) is caused by a defect in the arylsulfatase A gene (ARSA, protein product cerebroside sulfatase).

Synonyms

• (genetic metabolic disorder): MLD, ARSA deficiency, Arylsulfatase A deficiency

Translations

genetic metabolic disorder

• Italian: leucodistrofia metacromatica f, malattia di Scholz f, deficit di Arilsulfatasi m

Further reading

• Arylsulfatase A on Wikipedia.Wikipedia