Tag: Lysosomal Storage Disorders
Mucopolysaccharidoses
Mucopolysaccharidoses: Definition and Description of Mucopolysaccharidoses: Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders caused by the deficiency of specific enzymes necessary to break down glycosaminoglycans (GAGs), which are long chains of sugar molecules. These enzymes play a vital role in metabolism, and their deficiency leads to the accumulation of GAGs in various…
Lysosomal Storage Disorders
Lysosomal Storage Disorders Definition and Description of Lysosomal Storage Disorders Lysosomal Storage Disorders (LSDs) are a group of inherited metabolic conditions that result in the malfunction of lysosomes, which are cellular organelles responsible for breaking down waste materials and cellular debris. When lysosomes do not function properly, harmful substances can accumulate in cells, leading to…
Infantile Gaucher Disease
Infantile Gaucher Disease Definition and Description of Infantile Gaucher Disease Infantile Gaucher Disease is a rare genetic disorder that primarily affects infants and continues into childhood. It is caused by a deficiency of the enzyme glucocerebrosidase, which is essential for breaking down a type of fat called glucocerebroside. The accumulation of this fat in various…