Metachromatic leukodystrophy (ARSA and saposin B deficiency)
Autosomal recessive
Loss of arylsulfatase A activity, or of its activator saposin B, causes progressive loss of motor and cognitive skills, with late infantile, juvenile and adult onset forms.
What a diagnosis changes
Gene therapy (atidarsagene autotemcel) or stem cell transplantation can help when given before or very early in the course of the disease, so early diagnosis matters.
Also known as
arylsulfatase A deficiency; MLD
Includes 4 related subtypes ↓Hide subtypes ↑
- metachromatic leukodystrophy due to saposin B deficiency
- metachromatic leukodystrophy, adult form
- metachromatic leukodystrophy, juvenile form
- metachromatic leukodystrophy, late infantile form
