Research Progress on Pathogenesis and Pathologic Symptoms of Mucolipidosis Type Ⅱ

JIAO Zi-jun, JIN Jie-yuan, XIANG Rong

Life Science Research ›› 2020, Vol. 24 ›› Issue (6) : 499-503.

PDF(844 KB)
PDF(844 KB)
Life Science Research ›› 2020, Vol. 24 ›› Issue (6) : 499-503.

Research Progress on Pathogenesis and Pathologic Symptoms of Mucolipidosis Type Ⅱ

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Abstract

Abstract: Mucolipidosis type Ⅱ is a rare autosomal recessive disease caused by deficiency of N-acetylglucosamine-1-phosphotransferase, thus blocking lysosomal enzymes from entering lysosomes, and resulting in lysosomal dysfunction. It is characterized by coarse facial features, short stature, skeletal abnormalities, cardiomegaly, and developmental delay. In recent years, more and more attention has been paid to the research and treatment of such a rare disease. Herein, the research progress in the pathogenesis, pathological symptoms diagnosis and treatment of mucolipidosis type Ⅱ is summarized, so as to deepen the understanding of this disease and provide clues for related basic research and diagnosis.

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JIAO Zi-jun, JIN Jie-yuan, XIANG Rong. Research Progress on Pathogenesis and Pathologic Symptoms of Mucolipidosis Type Ⅱ[J]. Life Science Research, 2020, 24(6): 499-503
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