Screening for Sphingolipid-Storage Diseases
نویسندگان
چکیده
منابع مشابه
Newborn screening for lysosomal storage diseases.
BACKGROUND There is worldwide interest in newborn screening for lysosomal storage diseases because of the development of treatment options that give better results when carried out early in life. Screens with high differentiation between affected and nonaffected individuals are critical because of the large number of potential false positives. CONTENT This review summarizes 3 screening method...
متن کاملCharacterization of Drosophila Saposin-related mutants as a model for lysosomal sphingolipid storage diseases
Sphingolipidoses are inherited diseases belonging to the class of lysosomal storage diseases (LSDs), which are characterized by the accumulation of indigestible material in the lysosome caused by specific defects in the lysosomal degradation machinery. While some LSDs can be efficiently treated by enzyme replacement therapy (ERT), this is not possible if the nervous system is affected due to th...
متن کاملAbnormal Sphingolipid World in Inflammation Specific for Lysosomal Storage Diseases and Skin Disorders
Research in recent years has shown that sphingolipids are essential signalling molecules for the proper biological and structural functioning of cells. Long-term studies on the metabolism of sphingolipids have provided evidence for their role in the pathogenesis of a number of diseases. As many inflammatory diseases, such as lysosomal storage disorders and some dermatologic diseases, including ...
متن کاملDistribution of saposin proteins (sphingolipid activator proteins) in lysosomal storage and other diseases.
Saposins (A, B, C, and D) are small glycoproteins required for the hydrolysis of sphingolipids by specific lysosomal hydrolases. Concentrations of these saposins in brain, liver, and spleen from normal humans as well as patients with lysosomal storage disease were determined. A quantitative HPLC method was used for saposin A, C, and D and a stimulation assay was used for saposin B. In normal ti...
متن کاملEnzymatic Screening and Diagnosis of Lysosomal Storage Diseases.
Lysosomal storage diseases (LSDs) are a group of more than 50 genetic disorders. Clinical symptoms are caused by the deficiency of specific enzyme (enzymes) function and resultant substrate accumulation in the lysosomes, which leads to impaired cellular function and progressive tissue and organ dysfunction. Measurement of lysosomal enzyme activity plays an important role in the clinical diagnos...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1999
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-13-9-8