Related Experiment Video
Updated: Aug 15, 2026
10:16
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Enzyme therapy for lysosomal storage disease: principles, practice, and prospects
Gregory A Grabowski1, Robert J Hopkin
1The Division and Program in Human Genetics, Cincinnati Children's Hospital Research Foundation, Cincinnati, Ohio, 45229-3039, USA. greg.grabowski@chmcc.org
Annual Review of Genomics and Human Genetics
|October 7, 2003
Summary
Enzyme therapy has evolved for lysosomal storage diseases, offering effective clinical care. Understanding cellular processes and disease pathology enables successful treatment for conditions like Gaucher disease.
Area of Science:
- Biochemistry
- Genetics
- Medicine
Background:
- Lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders.
- Enzyme replacement therapy (ERT) has emerged as a significant treatment modality for LSDs.
- Understanding lysosomal biology is crucial for developing effective therapies.
Purpose of the Study:
- To review the scientific principles underlying enzyme therapy for LSDs.
- To discuss the progress and application of ERT in specific LSDs.
- To highlight the potential for expanding ERT to other LSDs.
Main Methods:
- Review of scientific literature on lysosomal biogenesis and hydrolase function.
- Analysis of clinical data and outcomes for patients with Gaucher disease, Fabry disease, and mucopolysaccharidosis I.
- Synthesis of principles and progress in ERT for selected LSDs.
Main Results:
- Significant advancements in ERT have transformed patient care for LSDs.
- Detailed understanding of lysosomal pathways is key to ERT efficacy.
- Gaucher disease, Fabry disease, and MPS I serve as successful models for ERT.
Conclusions:
- Enzyme therapy has transitioned from research to clinical practice for LSDs.
- The success in specific LSDs provides a framework for treating others.
- Continued research into lysosomal biology will drive further therapeutic innovation.
More Related Videos
Related Concept Videos
00:59Gene Therapy
Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...
01:22Lysosomal Hydrolases
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
01:24Cystic Fibrosis: Management
Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic sinusitis...
Sinus disease and chronic sinusitis...
01:24Pharmacokinetics in Pediatric Patients: Drug Metabolism
In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses a challenge in...
01:29Microorganisms in Medicine and Therapeutics
Microorganisms play a fundamental role in vaccine development, gene therapy, and therapeutic production. Their biological properties are harnessed to advance medicine and public health. Beyond immunization, microorganisms contribute to gut health, antibiotic synthesis, and genetic disease treatment.Live Attenuated and Inactivated VaccinesLive attenuated vaccines, such as the measles, mumps, and rubella (MMR) vaccine, utilize weakened forms of pathogens to closely resemble natural infections.
01:21Antiprotozoal Agents
Leishmaniasis is a widespread parasitic disease caused by several Leishmania species. It affects millions of people each year and remains a major public health problem in endemic regions. First-line treatment relies on pentavalent antimonials, including meglumine antimoniate and sodium stibogluconate. Even so, how these drugs work has not been fully clear, especially their interaction with parasite-specific biochemical pathways. One key target is trypanothione reductase (TR), an enzyme that...