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Sections Lipid Storage Disorders
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Medication

Medication Summary

Recombinant enzymes may be used to treat Gaucher and Fabry disease. Glucosylceramide synthase inhibitors are used for adults with type 1 Gaucher disease. For more information, see the Medscape Reference articles Gaucher Disease and Fabry Disease.

Class Summary

Specific recombinant enzymes are available to treat Gaucher and Fabry Disease.

Imiglucerase is approved for children aged 2 years or older for Gaucher disease. Velaglucerase and taliglucerase are both approved for children aged 4 years or older for Gaucher disease.

Imiglucerase (Cerezyme)

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A recombinant-derived analog of beta-glucocerebrosidase. It is an enzyme used for replacement therapy in type 1 Gaucher disease. Catalyzes hydrolytic cleavage of glucocerebroside (a glycoprotein) to glucose and ceramide within the lysosomes of phagocytic cells in the reticuloendothelial system. This normally is a catabolic pathway of membrane lipids derived from hematologic cell turnover. A deficiency of this enzyme results in accumulation of glucocerebroside within tissue macrophages, which become engorged with the glycolipid. Treatment improves anemia and thrombocytopenia, reduces spleen and liver size, and decreases cachexia.

Velaglucerase alfa (VPRIV)

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Hydrolytic lysosomal glucocerebroside-specific enzyme indicated for long-term enzyme replacement therapy for type 1 Gaucher disease. Improves symptoms associated with the disease, including anemia, thrombocytopenia, increased spleen and liver size, and cachexia.

Taliglucerase alfa (Elelyso)

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Taliglucerase is a plant-based recombinant enzyme for type I Gaucher disease. It catalyzes the hydrolysis of glucocerebroside to glucose and ceramide, which results in reduced spleen and liver enlargement and increased RBCs and platelets.

Agalsidase alfa (Fabrazyme, Replagal)

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Recombinant form of the human enzyme alpha-galactosidase A, levels of which are deficient in Fabry disease. Data from clinical trials show a decrease in GL-3 levels following enzyme replacement, reversal in lipid tissue storage, stabilized or improved renal and cardiac function, and reduced or relief from neuropathic pain. Following enzyme replacement, the long-term use of neuropathic pain medication has been reduced.

Both agalsidase beta and alpha forms are designated as orphan drugs. Agalsidase beta (Fabrazyme) is manufactured by Genzyme Corporation (Cambridge, Mass) and is based on expression of the human GLA gene in CHO cells.

Agalsidase alfa (Replagal) is manufactured by Transkaryotic Therapies, Inc (Cambridge, Mass) and is based on activation of the human GLA gene expression in human (skin) fibroblasts.

Class Summary

These agents are indicated for type 1 Gaucher disease. These agents inhibit the enzyme glucosylceramide synthase, the initial enzyme in a series of reactions that result in the synthesis of most glycosphingolipids, including glucocerebroside. The goal of treatment is to reduce the rate of glucocerebroside biosynthesis so that the amount is reduced to a level that allows the residual activity of the deficient glucocerebrosidase enzyme to be more effective (substrate reduction therapy).

Eliglustat (Cerdelga)

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Eliglustat is a specific inhibitor of glucosylceramide synthase, thereby reducing production of glucosylceramide. It is indicated for the long-term treatment of adults with Gaucher disease type 1 who are CYP2D6 extensive metabolizers (EM), intermediate metabolizers (IM), or poor metabolizers (PM) as detected by an FDA-cleared test for phenotype. Dosage is based on establishing the patient's CYP2D6 metabolizer status.

Miglustat (Zavesca)

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Indicated for type 1 Gaucher disease in patients in whom ERT is not a therapeutic option. Reduces GSL production by inhibiting glucosylceramide synthase. Reduces spleen and liver volume and increases hemoglobin and platelet counts.

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Media Gallery

Autosomal recessive inheritance pattern.

of 1

Author

Rubia Khalak, MD Professor, Department of Pediatrics, Division of Neonatology, Bernard and Millie Duker Children’s Hospital, Albany Medical Center; Associate Dean of Enrollment Management and Administration, Advising Dean, Albany Medical College

Rubia Khalak, MD is a member of the following medical societies: American Academy of Pediatrics, Eastern Society for Pediatric Research, Medical Society of the State of New York, Society for Pediatric Research

Disclosure: Nothing to disclose.

Coauthor(s)

Emily MacIntosh, MS, RD Clinical Dietitian I, Albany Medical Center

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Eric T Rush, MD, FAAP, FACMG Associate Professor of Pediatrics, University of Missouri-Kansas City School of Medicine; Clinical Geneticist, Children's Mercy Hospital of Kansas City

Eric T Rush, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American College of Physicians, American Society for Bone and Mineral Research

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Alexion Pharmaceuticals, Ultragenyx Pharmaceutical, Biomarin Pharmaceuticals, ObsEva, Inozyme Pharma, Ascendis Pharma<br/>Serve(d) as a speaker or a member of a speakers bureau for: Alexion Pharmaceuticals, Ultragenyx Pharmaceutical, and Biomarin Pharmaceuticals<br/>Received research grant from: Alexion Pharmaceuticals.

Chief Editor

Luis O Rohena, MD, MS, FAAP, FACMG Chief, Medical Genetics, San Antonio Military Medical Center; Associate Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Associate Professor of Pediatrics, University of Texas Health Science Center at San Antonio

Luis O Rohena, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Additional Contributors

Edward Kaye, MD Vice President of Clinical Research, Genzyme Corporation

Edward Kaye, MD is a member of the following medical societies: American Academy of Neurology, Society for Inherited Metabolic Disorders, American Society of Gene and Cell Therapy, American Society of Human Genetics, Child Neurology Society

Disclosure: Received salary from Genzyme Corporation for management position.

Lynne Ierardi-Curto, MD, PhD Attending Physician, Division of Metabolism, Children's Hospital of Philadelphia

Disclosure: Nothing to disclose.

Tamam N Mohamad, MD, FACC, FSCAI, RVPI Clinical Associate Professor of Medicine (Cardiology), Wayne State University School of Medicine; Medical Director of Vein Clinic, Heart and Vascular Institute; Medical Director of Cardiac Genetic Disorder Center, Program Director of Cardiology-CCU Fellowship 1-Year Program, Staff Interventional Cardiologist, CardioVascular Institute, Detroit Medical Center; Chief of Cardiology, Director of Interventional Cardiac Care Unit, Director of Invasive Cardiology and Nuclear Medicine, Detroit Receiving Hospital

Tamam N Mohamad, MD, FACC, FSCAI, RVPI is a member of the following medical societies: American College of Cardiology, American College of Phlebology, American College of Physicians-American Society of Internal Medicine, American Medical Association, American Syrian Arab Cultural Association, Michigan State Medical Society, National Arab American Medical Association, Society for Cardiac Angiography and Interventions, Syrian American Medical Society, Wayne County Medical Society

Disclosure: Nothing to disclose.

Mahmoud Ali, MD Resident Physician, Department of Internal Medicine, Henry Ford Hospital

Mahmoud Ali, MD is a member of the following medical societies: American College of Cardiology, American Thoracic Society, Society of General Internal Medicine, Society of Hospital Medicine

Disclosure: Nothing to disclose.

Asaad Nakhle, MD Chief Medical Resident, Department of Internal Medicine, Henry Ford Hospital

Asaad Nakhle, MD is a member of the following medical societies: American College of Cardiology, American College of Physicians, American Heart Association, Society of General Internal Medicine

Disclosure: Nothing to disclose.

Sections Lipid Storage Disorders
Overview
Presentation
- History
- Physical
- Causes
- Complications
- Show All
DDx
Workup
Treatment
Guidelines
Medication
References

Lipid Storage Disorders Medication

Medication Summary

Enzyme replacement therapies