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Updated: Jun 26, 2025

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在中国,新生儿对6种溶酶体储存障碍进行查

Siyu Chang1, Xia Zhan1, Yuchao Liu1

  • 1Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

JAMA network open
|May 13, 2024
PubMed
概括

上海的新生儿查发现,在新生儿出生时, lysosomal storage disorders (LSD) 的患病率很高. 双重质谱法 (MS/MS) 确定了27名新生儿患有LSD,主要是晚期发病的形式.

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Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
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