The Spectrum of Movement Disorders in Childhood-onset Lysosomal Storage 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...
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 کاملStorage problems in lysosomal diseases.
Biochemical disorders in lysosomal storage diseases consist of the interruption of metabolic pathways involved in the recycling of the degradation products of one or several types of macromolecules. The progressive accumulation of these primary storage products is the direct consequence of the genetic defect and represents the initial pathogenic event. Downstream consequences for the affected c...
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Lysosomes are ubiquitous intracellular organelles that have an acidic internal pH, and play crucial roles in cellular clearance. Numerous functions depend on normal lysosomes, including the turnover of cellular constituents, cholesterol homeostasis, downregulation of surface receptors, inactivation of pathogenic organisms, repair of the plasma membrane and bone remodeling. Lysosomal storage dis...
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ژورنال
عنوان ژورنال: Movement Disorders Clinical Practice
سال: 2018
ISSN: 2330-1619
DOI: 10.1002/mdc3.12573