Ultragenyx – Hiding in plain sight

Hiding in plain sight: Detecting rare metabolic disease in the ED

Learning Objectives

  • Evaluate real-world case studies of patients with metabolic disease presenting to the ED
  • Define the appropriate symptoms in both children and adults that should heighten the index of suspicion for metabolic disease in the ED
  • Describe the unique safety requirements and management strategies for suspected metabolic disease patients in the ED



Dr Khan is Medical Director of MAGIC Clinic Ltd, Pediatrician and Medical Geneticist, Adjunct Professor of Pediatrics, University of Calgary Cumming School of Medicine, and Metabolic Consultant for Saskatchewan Health Authority.

The MAGIC (Metabolics and Genetics in Calgary) Clinic is a medical clinic that specializes in looking after patients (children and adults) with rare diseases that are due to changes in their DNA. Things like Lysosomal Storage Diseases (Fabry disease, Gaucher disease, Pompe disease to name a few), Mitochondrial Diseases, and overall more than 2,000 known different genetic diseases.

Dr. Khan has extensive experience in diagnosing and treating mitochondrial diseases and published the largest clinical trial in Canada, called MITO-FIND, focusing on using DNA sequencing methods to diagnose mitochondrial disease.  After having performed hundreds of muscle biopsies on children and adults, he worked with his team to develop a mitochondrial DNA sequencing method that can make a diagnosis from a cheek swab using Nanopore sequencing without the need to do a muscle biopsy in the majority of cases.

Dr. Khan was the first physician in the world to treat Fabry disease and Gaucher disease using Gene Therapy, the first in Canada to use Liver Cell Transplant and Gene Therapy to treat Urea Cycle Diseases and is experienced in using research drugs injected directly into the spine.

Eddy LangEddy Lang

Eddy Lang is a Professor and Department Head for Emergency Medicine at Cumming School of Medicine- University of Calgary and Alberta Health Services, Calgary Zone. His areas of interest are knowledge translation, evidence-based medicine and operations research. He is a member of the GRADE working group and has led the development of GRADE-based clinical practice guidelines in pre-hospital care in the US as well as with the International Liaison Committee for Resuscitation. 

Dr. Lang is also an award-winning educator having received recognition at both the university, national and international levels.  He also serves as Senior Editor for the Canadian Journal of Emergency Medicine, Associate Editor for both ACP Journal Club and the International Journal of Emergency Medicine. In addition, he is a member of the Canadian Task Force on Preventive Health Care (CTFPHC). Dr. Lang chaired the Canadian Association of Emergency Physicians Conference (CAEP) 2018 and he was appointed as the Scientific Director of the Emergency Strategic Clinical Network ESCN in Alberta.  Dr. Lang is co-Chairing the 2022 Preventing Overdiagnosis Conference in Calgary.

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