Dictionary

metachromatic leukodystrophy en · NOUN

Meanings

1. Any of a range of genetic metabolic disorders caused by defective genes for arylsulfatase enzymes,
   • 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. 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 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). 2014, Juan M Bilbao, Robert E Schmidt, Biopsy Diagnosis of Peripheral Neuropathy, Springer, page 429:
   • 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. 2010, Michael C. Brodsky, Pediatric Neuro-Ophthalmology, Springer, page 478:
2. Any of a range of genetic metabolic disorders caused by defective genes for arylsulfatase enzymes, especially, a deficiency in the enzyme ARSA (arylsulfatase A). ▸ especially, a deficiency in the enzyme ARSA (arylsulfatase A).

Forms

Synonyms

arylsulfatase A deficiency (genetic metabolic disorder) · ARSA deficiency (genetic metabolic disorder) · MLD (genetic metabolic disorder)

Translations (3)

it deficit di Arilsulfatasi (genetic metabolic disorder) · it leucodistrofia metacromatica (genetic metabolic disorder) · it malattia di Scholz (genetic metabolic disorder)