The Link Between Lysosomal Storage Disorders and More Common Diseases
نویسندگان
چکیده
منابع مشابه
Lysosomal storage diseases: heterogeneous group of disorders.
The name of lysosomal storage diseases stems from the fact that in this category of disorders specific undegraded materials are stored in the lysosomes. This is usually caused by a lysosomal enzyme deficiency and leads to a cascade of pathological outcomes. Apart from deficiency of lysosomal enzymes, lysosomal storage diseases also include deficiencies in proteins necessary for enzyme functioni...
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Lysosomal storage diseases (LSDs) are a group of rare, life-threatening genetic disorders, usually caused by a dysfunction in one of the many enzymes responsible for intralysosomal digestion. Even though no cure is available for any LSD, a few treatment strategies do exist. Traditionally, efforts have been mainly targeting the functional loss of the enzyme, by injection of a recombinant formula...
متن کاملLysosomal storage diseases
Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include glycogen in the case of Pompe disease, glycosaminoglycans in the case of the mucopolysaccharidoses, glycoproteins in the cases of the oligosac...
متن کاملClarifying lysosomal storage diseases.
Lysosomal storage diseases (LSDs) are a class of metabolic disorders caused by mutations in proteins critical for lysosomal function. Such proteins include lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins. There are many recognized forms of LSDs and, although individually rare, their combi...
متن کاملLysosomes and Lysosomal Storage Diseases
157 in the delivery room, and the normal newborn with a number of very pertinent sections about the situations in which the neonate finds himself in most serious trouble. The chapter on assessment of gestational age, for example, has both pictures and charts which will allow the physician to compare the physical examination in the patient with established standards. Pictures are of excellent qu...
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ژورنال
عنوان ژورنال: Journal of Inborn Errors of Metabolism and Screening
سال: 2016
ISSN: 2326-4098,2326-4594
DOI: 10.1177/2326409816682767