Lysosomal storage disorders (LSDs) are a growing group of more than 50 inherited diseases in which waste products build up in the lysosomes and affect several organ systems. Enzyme replacement therapy (ERT) replaces the missing or inactive enzyme and is now available for several of these disorders.
This book summarises the ERT dosages supported by the best available evidence and gives a detailed protocol for each medication: preparation, dosage, administration, storage, side effects and monitoring. It is written for health care professionals who prescribe, prepare or give ERT.
Contents
- Protocol for Pompe disease patients started on Myozyme® (alglucosidase alfa)
- Protocol for immune tolerance induction for CRIM-negative Pompe patients in the naïve setting
- Protocol for mucopolysaccharidosis type I (MPS I) patients started on Aldurazyme® (laronidase)
- Protocol for mucopolysaccharidosis type II (MPS II) patients started on Elaprase® (idursulfase)
- Protocol for mucopolysaccharidosis type IVA (MPS IVA) patients started on Vimizim® (elosulfase alfa)
- Protocol for mucopolysaccharidosis type VI (MPS VI) patients started on Naglazyme® (galsulfase)
- Protocol for Fabry disease patients started on enzyme replacement therapy
- Protocol for Gaucher disease patients started on Cerezyme® (imiglucerase)
About the lead author
Prof. Majid Alfadhel MD, MHSc, SSC-Ped, ABHS(CH), FCCMG
Deputy Executive Director, King Abdullah International Medical Research Centre
Chairman, Genetics and Precision Medicine Department (GPM)
Director, Medical Genomic Research Lab
King Saud Bin Abdulaziz University for Health Sciences
King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGHA), Riyadh, Saudi Arabia
Co-author: Hiba Moubayed, PharmD, BCPPS.
The full book is free to download as a PDF.