metachromatic leukodystrophy
Word Rarity
Very rare
Frequency: 0.96 in modern English
54
Scrabble Score
27
Letters
5
Syllables
16
Unique Chars
Meaning
noun
Any of a range of genetic metabolic disorders caused by defective genes for arylsulfatase enzymes,
noun
Any of a range of genetic metabolic disorders caused by defective genes for arylsulfatase enzymes, especially, a deficiency in the enzyme ARSA (arylsulfatase A).
Example Sentences
- "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)."