Article
A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months.
International journal of molecular sciences - 2 Feb 2020
Nakamura-Utsunomiya Akari, Nakamae Toshio, Kagawa Reiko, Karakawa Shuhei, Sakata Sonoko, Sakura Fumiaki, Tani Chihiro, Matsubara Yoshiko, Ishino Takashi, Tajima Go, Okada Satoshi
Abstract excerpt
BACKGROUND: Morquio A syndrome, mucopolysaccharidosis type IVA (MPS IVA), is a lysosomal storage disorder caused by the deficient activity of N-acetylgalactosamine-6-sulfatase (GalNac6S), due to alterations in the GALNS gene. This disorder results in marked abnormalities in bones and connective tissues, and affects multiple organs. Here, we describe the clinical course of a Japanese boy with MPS IVA who began...
Topics
- Child, Preschool
- Chondroitinsulfatases
- Enzyme Replacement Therapy
- Humans
- Male
- Mucopolysaccharidosis IV
- Mutation
- Prognosis