• Laboratory investigation and diagnosis of any patient whose differential assessment includes an inherited metabolic disorder
• Provision of ongoing metabolite monitoring for the management of patients with inherited metabolic disease
• Provision of integrated laboratory support to the inherited metabolic disorders clinic

These goals are accomplished through a broad range of qualitative and quantitative screening tools including: amino acid analysis, organic acid analysis, acyl-carnitine profiles, purine and pyrimidine profiles, glycosaminoglycan and oligosaccharide electrophoresis, sugar chromatography, very long chain fatty acids, and a variety of specific metabolites, such as 7-dehydrocholesterol, methylmalonic acid.  A broad range of enzyme assays are also available.

Research focus

The laboratory continues to be involved in the development and application of new methodologies for the diagnosis and monitoring of inherited metabolic disease.  The application of the principles of metabolic analyses are being applied to the comprehensive metabolite profiles obtained for patients with defined and unknown metabolic disorders.  These studies are providing insight into novel metabolic relationships which we believe will have application in the profiling of disease status and as biomarkers for the effectiveness of therapeutic strategies.

Training program

The laboratory is a Canadian College of Medical Geneticists accredited service and training centre.

Workload

The Biochemical Genetics Laboratory experienced a 7% increase in number of specimens received in each of the two preceding years.  In the last year, a further 20% increase occurred.  This growth appears to reflect the continued population growth in southern Alberta, the introduction of an expanded newborn metabolic screen for Alberta in 2007, and the increasing complexity of metabolic investigational work being carried out by the inherited Metabolic Disorders clinic.