Case Report: Diagnosis of Mucopolysaccharidosis Type IVA With Compound Heterozygous Galactosamine-6 Sulfatase Variants and Biopsy of Replaced Femoral Heads

• Main Authors: Yiyang Ma (Author), Hao Peng (Author), Fuchou Hsiang (Author), Haoyu Fang (Author), Dajiang Du (Author), Chenyi Jiang (Author), Yehui Wang (Author), Chun Chen (Author), Changqing Zhang (Author), Yun Gao (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

IntroductionMucopolysaccharidosis Type IVA (MPS IVA) or Morquio A Syndrome, is a rare metabolic disorder caused by compromised galactosamine-6 sulfatase (GALNS) encoded by GALNS gene (NM_000512.5), leading to keratin sulfate (KS), and chondroitin-6-sulfate accumulation in various organs. We present...