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- MPS disease information
黏多醣儲積症疾病的背景資料 - How GAG accumulation affects cartilage
黏多醣體-葡萄糖胺聚合醣儲積如何影響軟骨 - Hip dysplasia in MPS
黏多醣儲積症引起的髖關節發育不良 - Spinal deformities in MPS
黏多醣儲積症引起的脊椎變異 - Ribs and shoulders in MPS
黏多醣儲積症引起的肋骨和肩膀問題 - Hand and other bone deformities in MPS
手和其他骨骼異常 - Non-skeletal manifestations of MPS
黏多醣儲積症其他非骨骼系統的表徵 - Diagnostic dilemma
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MPS disease information
About MPS
- Mucopolysaccharidosis (MPS): a group of rare diseases caused by congenital defects in lysosomal enzymes1
- These enzymes are responsible for the degradation of glycosaminoglycans (GAGs)1
- In MPS, GAGs accumulate in different parts of the body because lysosomal enzymes are absent or non-functional. This causes multisystemic problems1
- Bone-related symptoms are among the first that MPS patients develop1. Therefore, the orthopedic surgeon is in a position to diagnose the disease
Orthopedic surgeons are among the first specialists to encounter MPS because patients often present with musculoskeletal signs and symptoms
MPS can be confirmed by a blood enzyme test1
Spectrum of clinical presentation2
Age of onset, spectrum of symptom severity and rate of disease progression varies dramatically between and within MPS disorders
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- Lampe C. Rheumatology 2012;51:401–402
- Beck M et al. J Pediatr Rehabil Med 2010;3:39–46.