Article ID: 2025.01053
Mucopolysaccharidosis type IVA (MPS IVA) is a rare genetic disorder characterized by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase, leading to significant growth and developmental challenges, increased morbidity, and reduced life expectancy. We report the clinical characteristics and genetic basis of MPS IVA in an 11-year-old male patient, emphasizing the critical role of early diagnosis and intervention. The combination of enzyme activity testing and genetic testing screening for suspected clinical cases may shorten the diagnosis time and reduce the difficulty of diagnosis. Early screening for respiratory and cardiac complications in confirmed cases is beneficial for reducing patient mortality.
