metachromatic leukodystrophies
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arysulfatase A deficiency, ARSA deficiency, cerebroside sulfatase deficiency, sulfatide lipidosis, MLD, metachromatic leukodystrophy, sulfatase deficiency
Autosomal recessive metabolic disease.
The metachromatic leukodystrophies comprise 3 nonallelic forms:
arylsulfatase A deficiency (MIM.250100 at 22q13) with 5 allelic forms
- late infantile
- juvenile
- adult form
- partial cerebroside sulfate deficiency
- pseudo-arylsulfatase A deficiency
cerebroside sulfatase activator deficiency (MIM.249900) (saposin B deficiency) (MIM.176801)
multiple sulfatase deficiency or juvenile sulfatidosis (MIM.272200), a disorder that combines features of a mucopolysaccharidosis with those of metachromatic leukodystrophy.
See also