Biochemical Diseases

Dr. Sylvia Stockler, Division Head

Dr. Sylvia Stockler, Division Head

The Division of Biochemical Diseases is committed to the diagnosis and management of patients and families in British Columbia affected by Inborn Metabolic Diseases. The Cystic Fibrosis Clinic is also under the umbrella of the division of biochemical diseases. It provides leadership and excellence in pediatric metabolic medicine through state-of-the-art patient and family-oriented diagnosis and care, exemplary teaching and ethical research. Learn More





Founding member of the Canadian Inborn Errors Society - Garrod Association

Played vital role in the development of 1st Adult Metabolic Clinic  in Canada.

Established Specialized Product Distribution Centre (to facilitate patients on the special metabolic diet) and BCCH Lactation Support Service, are both established independent programs, along with “Pediatric Neurometabolic Clinic” with neurology

Joint “Lysosomal Storage disease clinic” with genetics

Standardization of diseases specific treatment and follow-up protocols

One of the first adult CF clinics in Canada.

One of the first clinics to implement transition protocols to the adult clinic

First adult CF centre to have more patients than its progenitor Children’s clinic, an indicator of the good health of CF patients in B.C.

Outreach Clinics for CF patients

With improved treatment and follow up, reduced the number of total in-patient days by 25 %

Chronic Pseudomonas incidence has dropped to 12 % (2007) from 44 % (1995) in our patient population

Clinic is accredited by the Canadian Cystic Fibrosis Foundation

Newborn screening (NBS) for Cystic Fibrosis is expected to be in place shortly.

TIDE-BC ( is funded by the BCCH Foundation as the 'First Collaborative Area of Innovation', which aims to identify treatable causes of intellectual disability in children living in British Columbia and to provide individualized care to those affected along, with improved evidence for new and existing treatments.

Our CIHR & Genome-BC funded gene discovery program ( is a global collaboration which combines genomic and metabolomics technologies to identify new treatable conditions in intellectual disability. Drs. Sylvia Stockler and Clara van Karnebeek are the Principal Investigators leading a multi-disciplinary team to achieve these goals.

Drs. Sylvia Stockler and Clara van Karnebeek

Drs. Sylvia Stockler and Clara van Karnebeek

The Division of Biochemical Diseases has outstanding and talented clinical and basic researchers and brings an international reputation in CF and Inborn Metabolic Diseases to Children's Hospital and the University of British Columbia. Active in single and multi-centre clinical trials, clinical and basic research, current areas of clinical research focus include:

See: List of Publications

BD Program: Research Projects:

Neuroprotective effect of ketone bodies: Development of a hypoketotic hypoglycemic neonatal rat model P. Schutz (PhD student) Establishment Award (Stockler)
Development of methods for screening and diagnosis of cerebral creatine deficiency (CRTR def) G Sinclair (BGL) Telethon 2007 (Stockler)
Pilot: human serotonine deficiency syndrome G Horvath / M Coulter-Mackie, Seed funding BD
Development of methods for screening, diagnosis and molecular characterization of PDE (Antiquitin deficiency) E Struys / M Coulter-Mackie, Bluma Tischler post doc award (PI: S. Stockler), Fellowship Grant(BCCH)
International LSD Registries E Yap-Todos / S. Stockler, Industry funded
Long term out come of hepatic WD patients Y. Lillquist, E Yap-Todos
Development of expression systems in e. coli for mutation in GAMT and Antiquitin genes Drafted M Coulter-Mackie and Sylvia Stockler

CF Program, Clinical Research Projects:

CF: IMannitol DPI (dry powder inhalation) as mucolytic in CF: nternational multi-centre (Industry sponsored) Now completed Dr. Davidson, M. McIlwaine
Azithromycin in CF patients without Pseudomonas aeruginosa colonization: International multi-centre (CFF sponsored) AGF Davidson, M. McIlwaine
Denufisol in CF : International multi-centre (Industry sponsored) Y. Lillquist, V. McMahon
Choline status of CF patients (CFF sponsored) AGF Davidson, S. Innis, V. McMahon
Effect of Choline-related supplements on abnormal plasma methionine-homocysteine metabolites and glutathione in CF Proof-of-concept study (CFF sponsored) AGF Davidson, S. Innis, V. McMahon
Canadian patient data registry, Canadian CF Foundation A. Gravelle, S. Jenkins, V. McMahon

Sub-specialty Fellows

There exists a shortage of specialists for Inborn Metabolic Diseases both nationally and internationally. Consequently, the Division has identified the education of biochemical genetics subspecialty fellows as its principal mandate. In Canada this subspecialty program is currently accredited by the Canadian College of Medical Geneticists (CCMG) and comprises a 3-year curriculum including education in clinical biochemical diseases, biochemical diseases laboratory and in medical genetics. The Division played a leading role in developing this training program across Canada and was one of the first sites to implement it. To find out about our alumni please click here.


Pediatric residents or other residents rotate through the metabolic diseases clinic for one month on an elective basis. Residents receive significant exposure to the complex metabolic patients through new hospital consults, follow-up of in-patients and being first on call for metabolic diseases. Residents have ample opportunity to see new referrals and newly diagnosed or follow-up patients in the outpatient clinic twice weekly.

Residents are also exposed to Cystic Fibrosis as a multi-system disease through a shared one month combined rotation for Respirology, Allergy & Immunology Clinic and the Cystic Fibrosis Clinic. Residents rotate through the CF clinic every Thursday for one month and they attend team rounds on every Thursday.

Medical Students

A two week rotation is available for third year medical students through the Division of Biochemical Diseases. Students are exposed to common metabolic diseases and cystic fibrosis through team rounds, CF and BD outpatient clinics. Students are encouraged to present on any of the common metabolic diseases. Please see the rotation curriculum.

Clinical Trainees

The Division has been providing continuous learning experience to physicians trained in other countries (IMG’s) who have educational license from the College of Physicians and Surgeons of BC. We are very pleased and proud of the number of IMG’s who have benefited from their experience in the Division to enable them to enter residency training programs and obtain full licensure. For the complete list of our clinical trainees please click here.

Continuing Medical Education (CME)

Our division actively participates in the continuing medical education that involves metabolic and cystic fibrosis conferences, on site grand rounds, advances in pediatrics and departmental academic rounds.

The Division's Clinics deal with complex, chronic disorders for which children and their families require coordinated support. To do this, two separate yet complementary and harmonious multidisciplinary teams have been formed, one for Biochemical Diseases (BD) and the other for Cystic Fibrosis (CF).  The Division currently runs two half-day BD clinics, a Neurometabolic clinic and three CF clinic half days per week. This has facilitated the development of 'model' clinics, which provide teaching opportunities for health care professionals from all disciplines.

Since 2005, the number of patients seen in the BD clinic has increased by 25%.  Upwards of 1,000 clinical encounters are carried out annually. In addition, more than 20 patients with metabolic diseases are monitored weekly and managed by a multidisciplinary team for dietary treatment and follow up. An increasing number of patients is treated and investigated in MDU/ MIF with complex treatment (e.g. Recombinant Enzyme Replacement Therapy) and diagnostic protocols.

Psychosocial aspects and the complex multi-organ character of most metabolic diseases have prompted the Division to organize increasing numbers of ad hoc multidisciplinary meetings and regular multi- and interdisciplinary rounds. We are also developing standard protocols for disease management which will make work more efficient and will serve as a quality control tool.

The CF clinic follows more than 140 patients. About 5 to 7 new CF patients are diagnosed every year. Outreach is an important part of the clinical service. Outreach Clinics for CF patients have been held in Prince George annually during the winter since 1999, and in Kamloops, twice per year since 2002. The 'outpatient-home monitoring service' enables therapy of metabolic patients to be adjusted at home between clinic visits, and brings substantial cost savings for the health care system.