Genotype-Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study.

ABSTRACT: Background/Objectives: Mucopolysaccharidosis type II (MPS II) is an inherited metabolic disorder characterized by progressive neurologic and extra-neurologic findings. We aimed to explore the age at symptom onset and at diagnosis as well as contribute to the phenotype-genotype association with new observations of MPS II based on a broad series of patients in Turkey. Methods: The presented study was retrospective and descriptive. Data on molecular analysis results, the age of onset and diagnosis, diagnostic delays, neurologic and extra-neurologic symptoms, enzyme and urine glycosaminoglycan (GAG) level results, brain magnetic resonance imaging, echocardiography, and electromyography were reviewed. Results: A total of 46 MPS II patients from 40 families were involved. Th

SUBMITTER: Yazıcı H 

PROVIDER: S-EPMC12607719 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature