Tag: enzyme deficiencies

  • 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…

  • Galactose-1-Phosphate Uridyl Transferase Deficiency

    Galactose-1-Phosphate Uridyl Transferase Deficiency Definition and Description of Galactose-1-Phosphate Uridyl Transferase Deficiency Galactose-1-Phosphate Uridyl Transferase Deficiency (GALT deficiency) is a rare genetic disorder that significantly impacts the body’s ability to metabolize galactose, a sugar found in milk and dairy products. This condition arises from mutations in the GALT gene, which is crucial for transforming galactose-1-phosphate…