Lysosomal lipid storage diseases in children. Modern diagnostic and treatment methods
نویسندگان
چکیده
منابع مشابه
Lysosomal 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...
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...
متن کاملInsights into the diagnosis and treatment of lysosomal storage diseases.
Lysosomal storage diseases (LSDs) are a group of genetic disorders that result from defective lysosomal metabolism or export of naturally occurring compounds. Signs and symptoms are variable both within and between disorders depending on the location and extent of storage. Many patients develop neurologic symptoms that become obvious from the newborn period to adulthood. Diagnosis of suspected ...
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ژورنال
عنوان ژورنال: Medical Council
سال: 2016
ISSN: 2658-5790,2079-701X
DOI: 10.21518/2079-701x-2016-1-128-135