enzyme replacement therapy


Summary: Therapeutic replacement or supplementation of defective or missing enzymes to alleviate the effects of enzyme deficiency (e.g., GLUCOSYLCERAMIDASE replacement for GAUCHER DISEASE).

Top Publications

  1. Markham A. Cerliponase Alfa: First Global Approval. Drugs. 2017;77:1247-1249 pubmed publisher
  2. Güngör D, Reuser A. How to describe the clinical spectrum in Pompe disease?. Am J Med Genet A. 2013;161A:399-400 pubmed publisher
  3. Madsen C, Bundgaard H, Rasmussen A, Sørensen S, Petersen J, Køber L, et al. Echocardiographic and clinical findings in patients with Fabry disease during long-term enzyme replacement therapy: a nationwide Danish cohort study. Scand Cardiovasc J. 2017;51:207-216 pubmed publisher
    ..Long-term efficacy of enzyme replacement therapy (ERT) on cardiac involvement is unclear...
  4. Güngör D, Kruijshaar M, Plug I, D Agostino R, Hagemans M, van Doorn P, et al. Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study. Orphanet J Rare Dis. 2013;8:49 pubmed publisher
    Pompe disease is a rare metabolic myopathy for which disease-specific enzyme replacement therapy (ERT) has been available since 2006. ERT has shown efficacy concerning muscle strength and pulmonary function in adult patients...
  5. Sly W, Vogler C. The final frontier -- crossing the blood-brain barrier. EMBO Mol Med. 2013;5:655-7 pubmed publisher
  6. Regier D, Proia R, D AZZO A, Tifft C. The GM1 and GM2 Gangliosidoses: Natural History and Progress toward Therapy. Pediatr Endocrinol Rev. 2016;13 Suppl 1:663-73 pubmed
    ..Treatment with FDA-approved glucose analogs to reduce the amount of ganglioside substrate is used as off-label treatments for some patients. Therapies also under clinical development include small molecule chaperones and gene therapy. ..
  7. Nascimbeni A, Fanin M, Tasca E, Angelini C, Sandri M. Impaired autophagy affects acid ?-glucosidase processing and enzyme replacement therapy efficacy in late-onset glycogen storage disease type II. Neuropathol Appl Neurobiol. 2015;41:672-5 pubmed publisher
  8. Tøndel C, Kanai T, Larsen K, Ito S, Politei J, Warnock D, et al. Foot process effacement is an early marker of nephropathy in young classic Fabry patients without albuminuria. Nephron. 2015;129:16-21 pubmed publisher
    ..Fabry disease, median age 12 (range 4-16 years) had a renal biopsy performed before the initiation of enzyme replacement therapy (ERT). All patients were normalbuminuric and had normal GFR...
  9. Huang A, Wu H, Iriyama T, Zhang Y, Sun K, Song A, et al. Elevated Adenosine Induces Placental DNA Hypomethylation Independent of A2B Receptor Signaling in Preeclampsia. Hypertension. 2017;70:209-218 pubmed publisher
    ..approaches to express an adenosine deaminase minigene specifically in placentas, or adenosine deaminase enzyme replacement therapy, restored placental adenosine to normal levels, attenuated preeclampsia features, and abolished ..

More Information


  1. Yogasundaram H, Kim D, Oudit O, Thompson R, Weidemann F, Oudit G. Clinical Features, Diagnosis, and Management of Patients With Anderson-Fabry Cardiomyopathy. Can J Cardiol. 2017;33:883-897 pubmed publisher
    ..b>Enzyme replacement therapy is indicated in AFD patients with significant organ involvement, and has been shown to clear ..
  2. Koopman W, Willems P, Smeitink J. Monogenic mitochondrial disorders. N Engl J Med. 2012;366:1132-41 pubmed publisher
  3. Choi J, Lee B, Heo S, Kim G, Kim Y, Kim D, et al. Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype. Medicine (Baltimore). 2017;96:e7387 pubmed publisher
    ..936+919 G>A) was not detected among the 6505 alleles via newborn screening using dried blood spots. Enzyme replacement therapy (ERT) was performed in all the males and pediatric patients, whereas 75% of the symptomatic females ..
  4. Arends M, Biegstraaten M, Hughes D, Mehta A, Elliott P, Oder D, et al. Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors. PLoS ONE. 2017;12:e0182379 pubmed publisher
    Despite enzyme replacement therapy, disease progression is observed in patients with Fabry disease...
  5. Tylki Szymanska A. Mucopolysaccharidosis type II, Hunter's syndrome. Pediatr Endocrinol Rev. 2014;12 Suppl 1:107-13 pubmed
    ..Current research is focused on pharmacological chaperones, gene therapy and substrate reduction therapy and therapies that, unlike Idursulfase, do cross the blood-brain barrier. ..
  6. Patil R, Joglekar V. Teenager male with burning pain in extremities--suspect Fabry disease, 2 case reports. J Assoc Physicians India. 2014;62:69-71 pubmed
    ..started on carbamazepine tablets for pain and referred to higher centre for genetic diagnosis and enzyme replacement therapy. CASE REPORT 2: An 18-year-old male referred to our hospital by general practitioner for fatigue and ..
  7. Nikfarjam M, Wilson J, Smith R. Diagnosis and management of pancreatic exocrine insufficiency. Med J Aust. 2017;207:161-165 pubmed
    ..Pancreatic enzyme replacement therapy (PERT) remains the mainstay of PEI treatment with the recommended adult initial enzyme dose being 25 000-..
  8. Raiman J, D Aco K. An 8-year-old girl with a history of stiff and painful joints. Pediatr Ann. 2014;43:307-9 pubmed publisher
  9. Prater S, Patel T, Buckley A, Mandel H, Vlodavski E, Banugaria S, et al. Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy. Orphanet J Rare Dis. 2013;8:90 pubmed publisher
    ..In this study, we characterize the long-term impact of enzyme replacement therapy (ERT) with recombinant human GAA (rhGAA) on lysosomal glycogen accumulation and autophagy in some of the ..
  10. Chan J, Desai A, Kazi Z, Corey K, Austin S, Hobson Webb L, et al. The emerging phenotype of late-onset Pompe disease: A systematic literature review. Mol Genet Metab. 2017;120:163-172 pubmed publisher
    ..To expand our understanding of the evolving phenotype of LOPD since the approval of enzyme replacement therapy (ERT) with alglucosidase alfa (Myozyme™/Lumizyme™) in 2006...
  11. Lenders M, Oder D, Nowak A, Canaan Kühl S, Arash Kaps L, Drechsler C, et al. Impact of immunosuppressive therapy on therapy-neutralizing antibodies in transplanted patients with Fabry disease. J Intern Med. 2017;282:241-253 pubmed publisher
    Inhibitory antibodies towards enzyme replacement therapy (ERT) are associated with disease progression and poor outcome in affected male patients with lysosomal disorders such as Fabry disease (FD)...
  12. Arenz C. Recent advances and novel treatments for sphingolipidoses. Future Med Chem. 2017;9:1687-1700 pubmed publisher
    ..In this review, different drug-based treatment strategies including enzyme replacement therapy and substrate reduction therapy are discussed...
  13. Fong Z, Alvino D, Castillo C, Nipp R, Traeger L, Ruddy M, et al. Health-related Quality of Life and Functional Outcomes in 5-year Survivors After Pancreaticoduodenectomy. Ann Surg. 2017;266:685-692 pubmed publisher
    ..Our aim was to assess quality of life (QOL) and functionality in a large cohort of patients ?5-years after pancreaticoduodenectomy (PD)...
  14. Dornelles A, Artigalás O, da Silva A, Ardila D, Alegra T, Pereira T, et al. Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis. PLoS ONE. 2017;12:e0184065 pubmed publisher
    ..Our findings suggest that IV laronidase effectively reduces urinary GAGs excretion, hepatomegaly and LVMI, and can improve shoulder flexion in MPS I patients. Laronidase appears to be safe in the studied population. ..
  15. Kim Y, Shin D, Park S, Cheon C, Yoo H. Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapy. BMC Med Genet. 2017;18:55 pubmed publisher
    Gastrointestinal involvement in Gaucher disease is very rare, and appears to be unresponsive to enzyme replacement therapy (ERT)...
  16. Ries M. Enzyme replacement therapy and beyond-in memoriam Roscoe O. Brady, M.D. (1923-2016). J Inherit Metab Dis. 2017;40:343-356 pubmed publisher
    ..Being able to treat brain disease is the next frontier. This review is dedicated to the memory of Roscoe O. Brady, an early pioneer in the research of lysosomal storage diseases. ..
  17. Schuchman E, Wasserstein M. Types A and B Niemann-Pick Disease. Pediatr Endocrinol Rev. 2016;13 Suppl 1:674-81 pubmed
    ..Impaired intracellular trafficking of cholesterol causes type C NPD, and two distinct gene defects have been found. In this chapter only types A and B NPD will be discussed. ..
  18. Pardo J, García Sobrino T, López Ferreiro A. Gastrointestinal symptoms in late-onset Pompe disease: Early response to enzyme replacement therapy. J Neurol Sci. 2015;353:181-2 pubmed publisher
  19. Tuttolomondo A. Anderson Fabry disease: a multiorgan metabolic disease susceptible of treatment. Curr Pharm Des. 2013;19:5972-3 pubmed
  20. Banugaria S, Patel T, Kishnani P. Immune modulation in Pompe disease treated with enzyme replacement therapy. Expert Rev Clin Immunol. 2012;8:497-9 pubmed
  21. Mistry P, Batista J, Andersson H, Balwani M, Burrow T, Charrow J, et al. Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry. Am J Hematol. 2017;92:929-939 pubmed publisher
    ..type 1 (GD1) patients at the time of treatment initiation has changed since alglucerase/imiglucerase enzyme replacement therapy (ERT) was approved in the United States (US) in 1991...
  22. Mistry P, Lukina E, Ben Turkia H, Shankar S, Baris H, Ghosn M, et al. Outcomes after 18 months of eliglustat therapy in treatment-naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial. Am J Hematol. 2017;92:1170-1176 pubmed publisher
    ..These findings underscore the efficacy of eliglustat in treatment-naïve patients. Eliglustat was well-tolerated, and there were no new safety concerns with longer-term exposure. ..
  23. Takahashi N, Yokoi S, Kasuno K, Kogami A, Tsukimura T, Togawa T, et al. A heterozygous female with Fabry disease due to a novel α-galactosidase A mutation exhibits a unique synaptopodin distribution in vacuolated podocytes. Clin Nephrol. 2015;83:301-8 pubmed publisher
    ..To our knowledge, this is the first report of immunohistologically detected synaptopodin upregulation in foamy podocytes in a patient with FD. ..