ABSTRACT
Mucopolysaccharidosis type I(MPS Ⅰ), a rare autosomal recessive metabolic disease with complex clinical manifestations, often involves multiple organs and results in a heavy disease burden, for which low diagnosis rate and delayed diagnosis are common. Enzyme replacement therapy and hematopoietic stem cell transplantation are the main treatments for MPS Ⅰ, and MPS Ⅰ patients can benefit from the two therapies as shown by a large amount of research data. There is a lack of awareness of MPS Ⅰ and little research has been done on that at present in China. This article will review the epidemiological characteristics, gene mutations and clinical phenotypes, clinical manifestations, diagnosis and treatment of MPS Ⅰ for understanding the diseases comprehensively as well as promoting early diagnosis and treatment, and earlier treatment may be beneficial to patients.
ABSTRACT
Objective To explore the application value of liquid chromotography tandem mass spectrometry (LC-MS/MS) in screening of inherited metabolic disease risk children ,and to provide a reference for the scientific prevention and control .Methods 246 cases of patients with inherited metabolic children blood samples were collected through the blood spots ,LC-MS/MS was used to examine blood samples from high risk cases of inherited metabolic who came from general hospital of Ningxia medical university . Results 30 cases were confirmed with inherited metabolic disease by the LC-MS/MS ,the positive rate was 12 .2% ,including 9 ca-ses of methylmalonic academia ,4 cases of isovaleric acidemia ,6 cases of phenylketonuria ,2 cases of propionic acidemia ,2 cases of citrullinemia ,1 cases of very long-chain acyl-CoA dehydrogenase ,1 cases of mitochondrial trifunctional protein deficiency ,1 cases of maple syrup urine disease ,3 cases of homocystinuria ,2 cases of argininesuccinic aciduria .Conclusion Liquid chromatography tan-dem mass spectrometry(L-MS/MS) technology is highly efficient and high reliability method in screening inherited metabolic dis-ease .