Metachromatic leukodystrophy (ARSA and saposin B deficiency)
Autozomálně recesivní
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.
Co se diagnózou změní
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.
Známé také jako
arylsulfatase A deficiency; MLD
Zahrnuje 4 příbuzných podtypů ↓Skrýt podtypy ↑
- metachromatic leukodystrophy due to saposin B deficiency
- metachromatic leukodystrophy, adult form
- metachromatic leukodystrophy, juvenile form
- metachromatic leukodystrophy, late infantile form
