Haiyan Shu, Xiaohong Shang, Yan Sun, Guimei Li, Chen Chen, Jianmei Yang
Licheng District Traditional Chinese Medicine Hospital. Shandong Provincial Hospital Affiliated to Shandong First Medical University. University of Queensland.
China and Australia
Intractable and Rare Diseases Research
Intractable Rare Dis Res 2025; 14: 303-305
DOI: 10.5582/irdr.2025.01053
Abstract
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.
Category
Class II. Pulmonary Hypertension Associated with Valvular Disease of the Left Side of the Heart
Genetic Factors Associated with Pulmonary Vascular Disease
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication
Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: Yes