Work

Early screening for respiratory and cardiac complications in pediatric mucopolysaccharidosis IVA: Insights from a case

Year: 2025

Type: article

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.

Source: Intractable & Rare Diseases Research

DOI: 10.5582/irdr.2025.01053

Authors: Haiyan Shu, Xiaohong Shang, Yan Sun, Guimei Li, Chen Chen, Jianmei Yang

Institutions: Shandong Provincial Hospital, Shandong First Medical University, The University of Queensland

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

Funders: National Natural Science Foundation of China, Natural Science Foundation of Shandong Province