Garrod Symposium 2018

Transplant in Inborn Errors of Metabolism

May 10 -12, 2018

In cooperation with

INTERPROFESSIONAL.UBC.CA/INITIATIVES/GARRODSYMPOSIUM2018/

Fairmont Hotel MacDonald Edmonton, AB

2 THE GARROD SYMPOSIUM 2018

LOCATION & TRAVEL

The meeting will be held at the Fairmont Hotel MacDonald (10065 100 St., Edmonton, AB). A special rate of $229.00 for a standard guest room (Fairmont Room: single/double occupancy) is available for conference delegates. To avoid disappointment, book by calling toll-free: 1.800.257.7544 or Local: +1.780.424.5181, please specify that you are booking under the Garrod Symposium 2018 room block to receive these reduced rates.

REGISTRATION

ONLINE: The quickest, most secure method is registering online. Registration is available for Visa/MasterCard holders at the meeting organizer’s website: www.interprofessional.ubc.ca/initiatives/garrodsymposium2018

BY FAX: Fax your completed registration form to: 1-604-822-4835

PHONE REGISTRATION: Toll free within North America: 1-855-827-3112; other callers: 1-604-827-3112

MAIL: Send the registration form with cheque to this address:

IN 9580 REGISTRATION, Interprofessional Continuing Education, The University of British Columbia, Room105-2194 Health Sciences Mall, Vancouver, BC, V6T 1Z3, Canada

Participants paying by credit card outside of North America: Please inform your credit card company of thetransaction as some banks put a block on credit card payments made outside your country.

TUITION FEES &MEETING PROGRAM

Please see the registration form (last page) for details. The tuition fee includes: welcome reception (May 10), breakfast (May 11 & 12), lunch (May 11 & 12), webinars and workshops (May 10-12), Garrod Association membership rate (if selected) and a certificate of attendance. Registration for the dinner event on Friday will also be available at an extra cost. Pre-registration before/on April 6, 2018 is strongly recommended to take advantage of the early-bird rate. To qualify for the Garrod Association member’s rate, one must pay the fee for membership dues during the registration process.

We will be including presenter slides (if the presenter permits) in our meeting program. We will send this program to you electronically (for free) a few days prior to the meeting but if you wish to purchase the paper copy that will be distributed on-site, please select the $20 option on the registration page.

CANCELLATION & REFUND POLICY

Notifications of cancellations must be sent by email to registration.ipce@ubc.ca on or before April 6, 2018 in order for registration fees to be refunded. If you have been invoiced but not paid the fees, you are still liable to pay the cancellation charges below:

• Up to and including April 6, 2018: Registration fee will be refunded less 20% cancellation fee.• After April 6 2018: No refunds on registration fees will be made. Substitutions can be made.

CREDITSThis conference has been approved by the Canadian Association of Genetic Counsellors (CAGC) for 12.58 CECs.

For additional information and updates regarding credits, please refer to the symposium organizer’s website: www.interprofessional.ubc.ca.

CONTACT For additional enquiries, please contact Jo at 604-822-0054 or jo.ipce@ubc.ca.

G E N E R A L I N F O R M A T I O N

LEARNING OBJECTIVES & PROGRAM

By the end of the meeting participants will be able to:

• Understand and outline the indications for different types of transplants in inborn errors of metabolism

• List common metabolic conditions where transplant is considered a beneficial therapeutic option

• Describe expected benefits and change in management following a successful transplant in at least 5 metabolic conditions

• Understand the scope of transplant in metabolic cardiac disorders

Please note: 25% of the scientific program will be interactive.

MAY 10 - 12, 2018 | EDMONTON, AB 3

PLATINUM

BRONZE

The Garrod Association and the Program Committee gratefully acknowledge the generous contributions and financial support from the following organizations:

S PONSOR S

GOLD

THE GARROD SYMPOSIUM 20184

12:00 Registration Open

12:30-14:30

CIMDRN Meeting (Invitation Only) (Room: Drawing Room)

14:30 -16:00

Garrod Executive Committee Meeting (Invitation Only) (Room: Cavonagh Boardroom)

14:30- 16:00

Nurse/Genetic Counselor Webinar(Room: Drawing Room)

Advances in Laboratory Diagnosis of Lysosomal Storage DisordersTim Wood, PhD, FACMG, Director, Metabolic Laboratory, Greenwood Genetic Center, Greenwood, SC, USA

1. Comprehend the general process of enzymatic assays commonly used for the diagnosis of LSDs

2. Recognize the limitations of urinary screening assays particularly for the MPS disorders

3. Compare an enzyme-first testing strategy with the classic screening strategies for identifying patients with a lysosomal storage disorder

4. Integrate molecular testing into testing for LSDs5. Assess how novel urinary testing methods can

improve/enhance treatment monitoring

14:30- 16:30

Dieticians’ Webinar(Room: Jasper Room)

Dietary Management in MMA, PA and MSUD: Focus on TransplantationGregory Enns, MB, ChB, Director, Biochemical Genetics Program, Department of Pediatrics, Stanford University, Stanford, CA, USA

1. Discuss perioperative nutrition in liver transplantation for patients with MMA, PA, and MSUD

2. Describe natural and metabolic protein tolerance pre vs post-transplant in MMA, PA, and MSUD

The session will conclude with discussion of three case studies to highlight nutritional aspects of liver transplantation in inherited metabolic disorders.

16:00-17:15

Plenary Session I: Bone Marrow Transplant (Room: Empire Ballroom)

Introduction and Welcome to the MeetingShailly Jain, MD, FRCPC, FCCMG, Clinical Geneticist & Metabolics Specialist, Associate Professor, Edmonton Medical Genetics Clinic, University of Alberta, Edmonton, AB

Hematopoietic Cell Therapy for Lysosomal and Peroxisomal DisordersPaul Orchard, MD, Medical Director, Inherited Metabolic & Storage Disease Bone Marrow Transplantation Program; Professor, Division of Pediatric Blood and Marrow Transplantation, Pediatric Blood & Marrow Transplantation Center, University of Minnesota, Minneapolis, MN

1. Understand the rationale for the use of hematopoietic transplanataion for inborn errors

2. Recognize the risks and limitations of transplanatation3. Have an appreciation for emerging issues related to

newborn screening

Discussion

17:15- 18:00

Platform Presentations (Selected Abstracts)Three abstracts (15 minutes each)

18:30-20:00

WELCOME RECEPTION(Room: Mezzanine Level)

PROGRAMTHURSDAY May 10, 2018

MAY 10 - 12, 2018 | EDMONTON, AB 5

PROGRAMFRIDAY

May 11, 2018

7:00- 8:00

Registration Open & Breakfast (Provided)(Room: Jasper Room & Drawing Room)

8:00-9:30

Plenary Session II: Liver Transplant(Room: Empire Ballroom)

Liver Transplantation: The Modern EraPatricia Kawada, Clinical Lecturer, Department of Pediatrics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB

1. Review Indications for liver transplantation 2. Current liver transplantation listing and allocation in

Canada 3. Surgical anatomy of liver transplantation 4. Outcomes of liver transplantation

Transplants in Patients with Inborn Errors of MetabolismAneal Khan, MD, MSc, FRCPC, FCCMG, Associate Professor, Department of Medical Genetics and Paediatrics, Alberta Children’s Hospital Research Institute, Cumming School of Medicine, University of Calgary, Metabolic Diseases Clinic, Calgary, AB

1. Understanding diverse use of transplants in patients with inborn errors of metabolism

2. Understanding that there are continuous medical issues that need to be monitored after transplant

3. To anticipate future challenges in transplant

Discussion

9:30-10:00

Refreshment Break & Exhibitors & Posters(Mezzanine Level)

10:00-11:50

Plenary Session III: Liver Transplant in Urea Cycle Disorders(Room: Empire Ballroom)

Liver transplant experience for Urea Cycle disorders in western CanadaAlicia Chan, FRCP (C), FCCMG, Clinical Geneticist and Metabolics Specialist, Associate Professor, Edmonton Medical Genetics Clinic, University of Alberta, Edmonton, AB

1. Describe the experience of liver transplantation for Urea Cycle disorders in western Canada

2. Describe the changes in liver transplantation for Urea Cycle disorders in western Canada from past to the present

The Toronto Experience in Liver Transplantation for Urea Cycle Disorders – Patient Selection and OutcomeYaron Avitzur, MD, Medical Director, Intestinal Rehabilitation and Transplantation, Gastroenterology, Hepatology and Nutrition; Director, Paediatric Gastroenterology Training Program, Gastroenterology, Hepatology and Nutrition; Staff Gastroenterologist, Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children; Associate Professor, Department of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, ON

1. Describe the experience of liver transplantation for UCDs in Toronto

2. Describe the changes in liver transplantation for UCDs including patient selection and post-transplant outcomes

Cognitive Outcomes in Liver TransplantShailly Jain, MD, FRCPC, FCCMG, Clinical Geneticist & Metabolics Specialist, Associate Professor, Edmonton Medical Genetics Clinic, University of Alberta, Edmonton, AB

1. Describe the cognitive outcomes in pediatric patients following liver transplant.

2. Compare and contrast these outcomes when transplant is done due to an inborn error of metabolism.

Discussion

11:50-12:30

12:30-13:00

Lunch (provided)(Room: Jasper Room & Drawing Room) Dessert & Exhibits (provided) (Mezzanine Level)

THE GARROD SYMPOSIUM 20186

PROGRAMFRIDAY

13:00-14:30

Plenary Session IV: Liver Transplant for Organic Acid Disorders(Room: Empire Ballroom)

Liver Transplantation for Organic AcidemiasGregory Enns, MB, ChB, Director, Biochemical Genetics Program, Department of Pediatrics, Stanford University, Stanford, CA

1. List possible indications for liver transplantation in patient who have organic acidemias

2. Summarize potential risks and benefits of liver transplantation for organic acidemias

3. Discuss outcome data related to survival and neurological status post-transplantation

Discussion

14:30-15:00

Refreshment Break & Exhibitors & Posters(Mezzanine Level)

15:00-16:30

Plenary Session V: Liver Transplant for MSUD and Tyrosinemia(Room: Empire Ballroom)

Liver Transplant for Maple Syrup Urine DiseaseKomudi Siriwardena, MBChB (Otago), FRACP, FCCMG, Clinical Geneticist and Metabolics Specialist, Associate Professor, Edmonton Medical Genetics Clinic, University of Alberta, Edmonton, AB

1. Summarize current trends for liver transplantation in MSUD

2. Discuss the benefits of transplantation in MSUD

Tyrosinemia: Current situation and challengesFernando Alvarez, MD, Director, Liver Transplant Program, CHU Sainte-Justine; Professor, Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Faculty of Medicine, University of Montreal, Montreal QC

1. Update challenges in the diagnosis of tyrosinemia2. Summarize current results on the treatment of

tyrosienmia3. Discuss the indications and outcome of liver

transplantation in Type I Tyrosinemia.

Discussion

16:30-17:45

Poster Walk & Exhibits & Light Refreshments (Mezzanine Level)

19:00-23:00

Garrod Symposium Gala DinnerPioneer Award Presentation and Entertainment(Location: Muttart Conservatory)Transportation will be provided.

May 11, 2018

MAY 10 - 12, 2018 | EDMONTON, AB 7

07:30– 08:15

Breakfast (Provided) (Room: Jasper Room & Drawing Room)

8:15-10:25

Plenary Session VI: Cardiomyopathies and metabolic disorders(Room: Empire Ballroom)

Pediatric Cardiomyopathies and Cardiac Transplantation in Metabolic DisordersJennifer Conway, MD, Assistant Professor, Division of Pediatric Cardiology, Department of Pediatrics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB

1. Understand the impact of metabolic diseases on the heart in children

2. Discuss the outcomes of children with cardiac involvement

3. Discuss the role of advanced heart failure therapies in the management of children with metabolic conditions

Cardiomyopathies in AdultsGavin Oudit, MD, PhD, FRCPC, Director, Heart Failure Program, Canada Research Chair in Heart Failure; Clinician-Scientist, Mazankowski Alberta Heart Institute; Associate Professor, Department of Medicine, University of Alberta, Edmonton, AB

1. Describe the causes of cardiomyopathies in adults2. Explain the pathophysiology of cardiomyopathies 3. Discuss the management of adult patients with

cardiomyopathies: role of genome editing and precision medicine

Mitochondrial respiratory chain disorders CardiomyopathyKomudi Siriwardena, MBChB (Otago), FRACP, FCCMG, Clinical Geneticist and Metabolics Specialist, Associate Professor, Edmonton Medical Genetics Clinic, University of Alberta, Edmonton, AB

1. Explain common respiratory chain disorders associated with high risk of cardiomyopathy.

2. Discuss Cardiac transplantation for respiratory chain disorders in the literature.

Discussion

PROGRAMSATURDAY

May 12, 2018

10:25-10:55

Refreshment Break & Exhibitors & Posters(Mezzanine Level)

10:55- 11:30

Platform Presentations (Selected Abstracts)Two abstracts (15 minutes each)

11:30-12:30

Garrod Association Membership Meeting(Room: Empire Ballroom)

12:30-13:30

Lunch (provided)(Room: Jasper Room & Drawing Room)

8

Executive CommitteePierre Allard, PhD, CSPQ, FCCMG Clinical Chemist, Sainte-Justine University Health Center Montreal, QC

Pranesh ChakrabortyMD, FRCPC, FCCMGAssociate Professor, Pediatrics and Biochemistry/Microbiology/Immunology, University of Ottawa; Medical Director, Newborn Screening Ontario; Metabolic Physician, Department of Pediatrics, Children’s Hospital of Eastern Ontario, Ottawa, ON

Jo NamSenior Education ManagerInterprofessional Continuing EducationThe University of British Columbia, Vancouver, BC

Andreas Schulze, MD, PhD, FRCPCProfessor Paediatrics and BiochemistryUniversity of Toronto, Toronto, ON

MEETING COMMITTEES

Shailly Jain, MD, FRCPC, FCCMG (Chair)Clinical Geneticist and Metabolics SpecialistAssociate ProfessorEdmonton Medical Genetics ClinicUniversity of Alberta, Edmonton, AB

Alicia K.J. Chan, MD, FRCP (C), FCCMG Clinical Geneticist/Associate ProfessorEdmonton Medical Genetics Clinic,University of Alberta, Edmonton, AB

Clara Hung, RN, BScNEdmonton Medical Genetics ClinicStollery Children’s Hospital, Edmonton, AB

Angela SchinkingerGenetic CounsellorEdmonton Medical Genetics ClinicUniversity of Alberta, Edmonton, AB

Komudi SiriwardenaMBChB (Otago), FRACP, FCCMG,Clinical Geneticist and Metabolics Specialist,Associate Professor,Edmonton Medical Genetics Clinic,University of Alberta, Edmonton, AB

Sydney St. JamesMetabolic DietitianEdmonton Medical Genetics ClinicStollery Children’s Hospital, Edmonton, AB

Iveta SosovaBiochemical Geneticist, Genetic Laboratory Services, Alberta Health Services; Joint Laboratory Head, Newborn Metabolic Screening and Biochemical Genetics Laboratory; Assistant Professor, Dept of Lab Medicine and Pathology, University of Alberta, Edmonton, AB

Local Programming and Organizing Committee

MAY 10 - 12, 2018 | EDMONTON, AB 9

1. A case series study to optimize the hemodialysis prescription for the treatment of hyperammonemic patients with ornithine transcarbamylase deficiency Chong C1,2, Wade A2,3, Khan A2,3 1Faculty of Science, University of Calgary, Calgary, AB, 2Alberta Children’s Hospital Research Institute, Calgary, AB, 3Faculty of Medicine, University of Calgary, Calgary, AB

2. Urea cycle disorders: Is fibrosis a common feature in all subtypes? A close look at liver cell injury from a Western Canadian Liver Transplantation Center Jain-Ghai S1, Chan A1, Siriwardena K1, Khan A4, Yap J2, Sergi C3 1Department of Medical Genetics, University of Alberta and Stollery Children’s Hospital, Edmonton, AB 2Department of Pediatrics, University of Alberta and Stollery Children’s Hospital, Edmonton, AB, 3Department of Lab Medicine and Pathology, University of Alberta and Stollery Children’s Hospital, Edmonton, AB, 4Medical Genetics and Pediatrics, University of Calgary, Alberta Children’s Hospital, Calgary, AB

3. An innovative treatment trial of peroxisomal biogenesis disorders with anti-pexophagy agents Sondheimer N1, 3, Kim P2 1The Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, 2Program in Cell Biology, The Hospital for Sick Children, Toronto, ON, 3Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON

4. Kidney disease and organ transplantation in methylmalonic acidaemia Prasad C2, Noone D1, Riedl M1, Ratko S2, Avitzur Y3, Sharma A2, Filler G2, Siriwardena K4 1 Division of Nephrology, The Hospital for Sick Children, Toronto, ON, 2 Department of Paediatrics, Western University, London, ON, 3Division of Hepatology and Gastroenterology, Department of Paediatrics, University of Toronto, Toronto, ON, 4Department of Medical Genetics University of Alberta/Stollery Children’s Hospital, Edmonton, AB,

5. Characteristics of a Canadian cohort of children with inherited metabolic diseases for which liver transplantation is a therapeutic option: Chart-reported findings from the Canadian Inherited Metabolic Diseases Research Network Chakraborty P1,2, Pugliese M3, Tingley K3, Kowalski M1, Lamoureux M1, Potter B3, Coyle D3, Wilson K3, Brunel C4, Buhas D5, Chapman M6, Chan A7, Dyack S6, Feigenbaum A8, Geraghty M9, Giezen A10, Gillis J10, Goobie S11, Karp N11, Kozenko M12, Kronick J8, Langley E9, Little J3, Mackenzie J12,13, Maranda B14, Mhanni A15, Mitchell G4, Mitchell J5, Nagy L8, Pender A12, Potter M12, Prasad C11, Ratko S11, Salvarinova R10, Schulze A8, Siriwardena K7, Sondheimer N8, Sparkes R16, Stockler S10, Trakadis Y5, Turner L17, Ueda K10, Van Karnebeek C10, Vallance H10, Vandersteen A6, Walia J13, Wilson B3, Yuskiv N10, Jain S7 1Newborn Screening Ontario, Children’s Hospital of Eastern Ontario, Ottawa, ON 2Department of Pediatrics, University of Ottawa, Ottawa, ON, 3School of Epidemiology and Public Health, University of Ottawa, Ottawa, ON, 4CHU Ste-Justine, Montréal, QC, 5Montréal Children’s Hospital, Montréal, QC, 6Dalhousie Unive_rsity, Halifax, NS, 7University of Alberta, Edmonton, AB, 8University of Toronto/Hospital for Sick Children, Toronto, ON, 9Children’s Hospital of Eastern Ontario, Ottawa, ON, 10BC Children’s Hospital, Vancouver, BC, 11Western University, London, ON, 12McMaster University, Hamilton, ON, Canada, 13Queen’s University, Kingston, ON, Canada, 14University of Sherbrooke, Sherbrooke, QC, 15University of Manitoba, Winnipeg, MB, 16Alberta Children’s Hospital, Calgary, AB, 17Memorial University, St. John’s, NL

PLATFORM PRESENTATION LISTING

10 THE GARROD SYMPOSIUM 2018

1. Controversies of jump analysis: squat jump is the optimal technique for use in clinical environments Bieber J, Sidhu K, Robu I, Ursulak G, Ramage B, Khan A

2. Transient Plasma Methionine, Total Homocysteine, S-adenosylmethionine and S-adenosylhomocysteine elevations in a patient diagnosed with NGLY1 deficiency; a Congenital Disorder of Deglycosylation Chang C, Martin S, Sinasac D, Al-Hertani W

3. Improving health care delivery for children diagnosed with rare metabolic diseases by learning from families and providers: protocol for phase I, a prospective cohort study of families’ health care experiences Chow A, Chakraborty P, Jordan I, Pallone N, Smith M, Rahman A, Tessier L, Brehaut J, Cohen E, Dyack S, Gillis J, Greenberg C, Grimshaw J, Hayeems R, Jolly A, Khangura S, MacKenzie J, Major N, Mitchell J, Nicholls S, Schulze A, Sparkes R, Speechley K, Stockler S, Teitelbaum M, Trakadis Y, Van Karnebeek C, Walia J, Wilson B, Wilson K, Potter B

4. Carnitine uptake defect due to a 5’UTR mutation Geraghty M, Bulman D, Faghfoury H, Tein I, Hartley T, Verbeeten K

5. Case Report: Two siblings with type VII 3-methylglutaconic aciduria due to mutations in CLPB gene Jain S, Sandha J, Belletrutti M, Kassiri J, Eisenstat D, Hildebrand K, Leonard N, Ajamian F

6. MITO-FIND: Mitochondrial Functional and Integrative Next Generation Diagnostics Kerr M, Hume, Sabouny R, Shutt T, Khan A

7. Plasma derived cell-free mitochondrial DNA (cf-mtDNA): A novel and non-invasive method to sequence intact mtDNA Khan A, Newell C, Hume S, Greenway S, Shearer J, Podemski L

8. Anesthetic Complications in patients with Niemann Pick C: Is there a higher risk? Khan A, Beckie T

9. Screening for Fabry cardiomyopathy using cardiac magnetic resonance imaging Koo D, Kerr M, White J, Khan A

10. Idiopathic chylous ascites in an adult patient with LRPPRC-associated Leigh syndrome: a coincidence or a rare clinical manifestation of mitochondrial dysfunction? Levtova A, Mitchell G, Giraldeau M, Daoust L, Fenyves D

11. Expanding the Clinical Phenotype of NUS1-CDG, a rare Congenital Disorder of Glycosylation? MacPherson M, Seargeant L, He M, Al-Hertani W

12. Diagnostic challenges in a patient with global developmental delay, lipodystrophy, periventricular leukomalacia and spasticity MacPherson M, Innes M, Seargeant L, He M, Al-Hertani W

13. Review of C5OH as a newborn screening target Marcadier J, Santander E, Fisher L, Al-Dirbashi O, Potter B, Prasad C, Rupar C, Potter M, Geraghty M, Schulze A, Chakraborty P

14. Targeted Reduction in Pathogenic Heteroplasmy Through Binding of G-Quadruplex DNA Naeem M, Maheshan R, Costford S, Sondheimer N

15. Drug Approval System in Canada Omar F, Koo D, Khan A

16. Liver transplantation for inborn errors of metabolism: A survey of care practices and delivery in Canadian metabolic clinics Paik K, Lamoureux M, Tingley K, Piedra S, Kronick J, Chakraborty P, Potter B, Geraghty M, Dyack S, Maranda B, Mhanni A, Mitchell G, Mitchell J, Potter M, Prasad C, Sparkes R, Stockler S, Turner L, Walia J, Jain S

17. D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the D2HGDH gene Phillips E, Sasarman F, Sinasac D, Al-Hertani W

18. Experiences with health care for children with inherited metabolic diseases in Canada: Updated findings from a multi-centre survey Pugliese M, Fairfax A, Tessier L, Lamoureux M, Chakraborty P, Coyle D, Kronick J, Wilson K, Giezen A, Hayeems R, Jain S, Karp N, Laberge A, Little J, Mitchell J, Prasad C, Siriwardena K, Sparkes R, Speechley K, Stockler S, Tingley K, Trakadis Y, Walia J, Wilson B, Potter B

19. Establishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: rapid review findings Rahman A, Pugliese M, Clifford T, Pallone N, Smith M, Stockler S, Chakraborty P6, Hutton B, Tessier L, Tingley K, Paik K, Tao J, Barbeau P, Garrity C, Skidmore B, Coyle D, Duddy K, Dyack S, Geraghty M, Greenberg C, Jain S, Karp N, Korngut L, Kronick J, MacKenzie A, Maranda B, Mitchell J, Nicholls S, Offringa M, Potter M, Prasad C, Schulze A, Sparkes R, Taljaard M1, Trakadis Y, Walia J, Potter B

20. Characterization of ocular changes in Gaucher disease: Case Report Rockman-Greenberg C, Stockl F, Johnston J, Barnes J, Zimmer L, Mhanni A, Duerksen D, Boutin M, Aurais-Blais C

POSTER LISTING

MAY 10 - 12, 2018 | EDMONTON, AB 11

21. Combined therapy trial of L-carnitine supplementation and L-valine restriction in a patient with 3-Hydroxyisobutyric aciduria due to a novel homozygous missense variant in the HIBADH gene Sasarman F, Rombough C, Reeves M, Fung E, Sinasac D, Al-Hertani W

22. The unexpected diagnosis: Case report of an atypical presentation of pyruvate dehydrogenase deficiency in an adult male Schinkinger A, Hung C, Shyu W, Siriwardena K

23. Medial rectus muscle and orbitofrontal region SUV measurements: a novel approach to detecting hypometabolism in mitochondrial disease (MD) Shanoada R, Molnar C, Khan A

24. Investigating in vivo bone architecture in hypophosphatasia using high-resolution peripheral computed tomography Sidhu K, Boyd S, Khan A

25. Importance of diet in treatment of mitochondrial respiratory chain disorders (RCDs) Siriwardena K, Ashkin A, Schinkinger A, Hung C, Shyu W, Sheehan M, St James S

26. Evolution of GFM1 gene phenotype with age Siriwardena K, Jain S, Hung C, Chan A

27. Impaired mitochondrial fatty acid oxidation due to synergistic heterozygosity for ACADM/ETFA alleles in a child with Rett syndrome Sosova I, Waters P, Goez H, Sinasac D, Sasarman, Ridsdale R, Cyr D, Jain-Ghai S

28. Utility of whey protein powder to establish dietary protein tolerance in young children with phenylketonuria Sparkes R, Rombough C

29. Suboptimal metabolic control following liver transplantation in a young adult with maple syrup urine disease Sparkes R, Reeves M, Strauss K, Carson V

30. Case report: Improved creatine kinase with decreased simple and supplemental carbohydrate intake in two siblings with Glycogen Storage Disease type IIIa St. James S, Chan A

31. HSD10 disease and p.Leu122Val variant: mild clinical phenotype and probable founder effect in French-Canadian patients from Quebec Waters P, Lace B, Buhas D, Cyr D, Gravel S, Boucher R, Bernard G, Maranda B

32. Analysis of glutaric acid, 3-hydroxyglutaric acid and glutarylcarnitine in dried urine spots by liquid chromatography tandem mass spectrometry as possible biomarkers of catabolism in glutaric aciduria type 1 Yu A, Geraghty M, Al-Dirbashi O

12 THE GARROD SYMPOSIUM 2018

REGISTRATION FORM | IN9580

THE GARROD ASSOCIATIONTHE GARROD SYMPOSIUM 2018: EDMONTON, AB | MAY 10 - 12, 2018

Alternative Payment MethodsMail or fax complete registration form along with one of the following:1. Signed purchase order (PO)2. Letter of Authorization (LOA) from the manager on the organization’s letterhead stating that they will be paying the registration fees. Must include the amount of registration fees, name and contact information of the manager3. Signed cheque requisition form (ChReq)

Cheque: Payment is enclosed with mailed registration form

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Credit Card: Please email me a secure link to enter my credit card numberPO/LOA/ChReq: Purchase order/letter of authorization/cheque requisition form is enclosed with faxed/mailed registration form

METHOD OF PAYMENTPayment by Credit Card Most secure and easy method1. Complete the full registration online at

www.interprofessional.ubc.ca with your Visa or MasterCard.2. Fax* the registration form to +1-604-822-4835 and indicate that you

would like to pay with Visa or MasterCard. We will send you the secure online link to enter your credit card information.

3. Register and pay over the phone: Local/International: +1-604-827-3112 or toll free within Canada/USA: +1-855-827-3112.

*Please do not fax your credit card information

Payment by Cheque Please make your cheque payable to the University of British Columbia and send it along with this form to: Interprofessional Continuing Education, The University of British Columbia, Room 105–2194 Health Sciences Mall, Vancouver, BC V6T 1Z3.

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Physician Registered Nurse Dietician Genetic Counsellor Lab

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Please write in block letters and use one registration form per person. Please photocopy the form if needed.

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DELEGATE INFORMATION

(If applicable) Please inform us of any dietary requirements for the meeting:

On or before After April 6* April 6, 2018 or Onsite

Non-Members $450 $550

Members** $330 $430

(This rate includes the $30 Garrod Association membership dues)

Student/ Trainee $100 $150

Allied Health Professional $100 $150

Additional Guest for Welcome Reception (Thursday)

Gala Dinner at Muttart Conservatory - Friday Regular Garrod Attendee $80 Additional guest(s) $120

TOTAL

(Rates include all applicable taxes)REGISTRATION RATES

SOCIAL EVENTS $50