Meaning of metachromatic leukodystrophy | Babel Free

Definitions

1. Any of a range of genetic metabolic disorders caused by defective genes for arylsulfatase enzymes,
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).
3. especially, a deficiency in the enzyme ARSA (arylsulfatase A).

Examples

“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.”

“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.”

“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).”

CEFR level