Lysosomal storage diseases are fatal group of diseases and a main application of<unk> . Lysosomes are cellular organelles that are responsible for the metabolism of many different macromolecules and proteins. They use<unk> s to break down macromolecules, which are recycled or disposed. As of 2012, there are 50 lysosomal storage diseases, and more are still being discovered. These disorders arise because of genetic mutations that prevent the production of certain<unk> s used in the lysosomes. The missing<unk>  often leads to a build-up of the substrate within the body. This can result in a variety of symptoms, many of which are severe and can affect the skeleton, brain, skin, heart, and the central nervous system. Increasing the concentration of the missing<unk>  within the body has been shown to improve the body's normal cellular metabolic processes and reduce substrate concentration in the body.<unk>  has also been successful in treating severe combined immunodeficiency caused by an adenosine deaminase deficiency (ADA-SCID). This is a fatal childhood disease that requires early medical intervention. When the<unk>  adenosine deaminase is deficient in the body, the result is a toxic build-up of metabolites that impair lymphocyte development and function. Many ADA deficient children with SCID have been treated with the polyethylene glycol-conjugated adenosine deaminase (PEG-ADA)<unk> . This is a form of<unk>  that has resulted in healthier, longer lives for patients with ADA-SCID. +Nine lysosomal storage diseases and corresponding<unk> <unk> es. Information in this table is from pivotal clinical trials. Disease<unk>  Administration and Dosage in Pivotal Clinical Trials Fabry disease Agalsidase beta IV Age range 16–61: 1 mg/kg every 2 weeks Fabry disease Agalsidase alfa* IV Adult males: 0.2 mg/kg every 2 weeks Gaucher disease Imiglucerase IV Age range 12–69: 15–60 U/kg every 2 weeks Gaucher disease Taliglucerase alfa IV Age range 19–74: 11–73 U/kg every 2 weeks Gaucher disease Velaglucerase alfa IV Age range 4–62: 15–60 U/kg every 2 weeks Gaucher disease type I Alglucerase IV Age range 7–42: 2.5 U/kg 3 times a week, up to 60 U/kg as frequently as once a week or as infrequently as every 4 weeks Lysosomal acid lipase deficiency (Wolman disease/CESD) Sebelipase alpha IV Age range 1–6 months: 1 mg/kg every 2 weeks Age range 4–58: 1–3 mg/kg weekly MPS I Laronidase IV Age range 6–43: 100 U/kg weekly MPS II Idursulfase IV Age range 5–31: 0.5 mg/kg weekly MPS IVA Elosulfase alpha IV Age range 5–57: 2 mg/kg weekly MPS VI Galsulfase IV Age range 5–29: 1 mg/kg weekly Pompe disease Alglucosidase alpha (160L bioreactor) IV Age range 1–3.5: 20 mg/kg every 2 weeks Pompe disease Alglucosidase alpha (4000L bioreactor) IV Age range 10–70: 20 mg/kg every 2 weeks
Enzyme replacement therapy
Low-FODMAP diet
Gluten-free, casein-free diet
Intermittent fasting
Islet cell transplantation
Gluten-free diet
Elimination diet
Low-protein diet