Article
Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum.
Journal of molecular neuroscience : MN - 1 May 2021
Amr Khalda, Fateen Ekram, Mansour Lobna, Tosson Angie Ms, Zaki Maha S, Salam Ghada Mh Abdel, Mohamed Ahmed Nabil, El-Bassyouni Hala T
Abstract excerpt
Metachromatic leukodystrophy (MLD) is a neurodegenerative disorder characterized by progressive demyelination due to deficiency of the enzyme arylsulfatase A (ARSA) in leukocytes, and consequently leads to impaired degradation and accumulation of cerebroside-3-sulfate (sulfatide). This study aimed to sequence the ARSA gene in a total of 43 patients with metachromatic leukodystrophy descendant from 40 Egyptian...
Topics
- Cerebroside-Sulfatase
- Child
- Child, Preschool
- Humans
- Infant
- Leukodystrophy, Metachromatic
- Mutation
- Phenotype