A Cross-specialty Collaboration Platform for Mucopolysaccharidosis Confirmative Diagnosis

The Establishment of a Cross-specialty Collaboration Platform Among Different Medical Specialties Based on High-risk Criteria for Mucopolysaccharidosis Confirmative Diagnosis

In this study the investigators is aimed to establish the MPS screening algorithm for high risk patients who had medical history of previous surgical repair or presence of inguinal and/or umbilical hernia with combination of any ENT related surgery or examination in Taiwan.

Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders. In individuals with MPS disorders, have deficiency or malfunction of specific lysosomal enzymes leads to an abnormal accumulation of certain complex carbohydrates (mucopolysaccharides or glycosaminoglycans) in the arteries, skeleton, eyes, joints, ears, skin, and/or teeth. These accumulations may also be found in the respiratory system, liver, spleen, central nervous system, blood, and bone marrow. This accumulation eventually causes progressive damage to cells, tissues, and various organ systems of the body. Due to such an extreme variability in clinical presentation as well as wide range of disease spectrum, but insufficient MPS disease awareness in Taiwan, these resulted in a delay diagnosis or even miss diagnosis with other clinical symptom thus patient often received inappropriate treatment. In order to address the current issue of delay diagnosis among MPS patient, it is critical to develop a MPS screening algorithm for high risk patients in Taiwan.

Inclusion Criteria:

• The subject is 0-20 years of age.
• The subject had medical history of previous surgical hernia repair or presence of inguinal and/or umbilical hernia.
• The subject had or is scheduled for ENT surgery for any of the following, alone or in combination with adenoidectomy, tonsillectomy, ear tube insertion/tympanostomy, tracheotomy and bronchoscopy
• The subject who is willing and able to provide written, signed informed consent, or by a legally authorized representative after the nature of the study has been explained and prior to any research-related procedures.

Exclusion Criteria:

-The subject has a current confirmed diagnosis of any MPS disorder.