Metachromatic leukodystrophy (ARSA and saposin B deficiency)
Autoszomális recesszív
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.
Mit változtat a diagnózis
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.
Más néven
arylsulfatase A deficiency; MLD
4 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- metachromatic leukodystrophy due to saposin B deficiency
- metachromatic leukodystrophy, adult form
- metachromatic leukodystrophy, juvenile form
- metachromatic leukodystrophy, late infantile form
