Speaker:
Andre M Mattman, MD, FRCPC. Division Head for Chemistry and consultant with the Adult Metabolic Diseases Clinic. St Paul’s Hospital & Vancouver General Hospital.
Trained at UBC for medical school and medical biochemistry residency program. One year of research in mitochondrial disease at the Montreal Neurological Institute under direction of Dr Eric Shoubridge. Consultant at the Adult Metabolic Diseases Clinic at Vancouver General Hospital for 15 years. Chair of the Royal College national specialty committee in medical biochemistry for the past 6 years. Chair of the Provincial Laboratory Medicine Services chemistry advisory group for the past 5 years. Division Head of chemistry at St Paul’s Chemistry since 2020
Overview:
Adult onset presentations of hepatic inborn errors of metabolism include hyperammonemia, hypoketotic hypoglycemia, intrahepatic cholestasis, hepatosplenomegaly, steatohepatitis,cirrhosis and multisystem disease. The clinical and laboratory approach to the recognition of these disorders will be presented.
Objectives:
At the end of this activity, participants will be able to:
- Recognize the clinical features which increase the likelihood that an adult presenting with a given hepatic disorder, has an inborn error of metabolism.
- When considering a hepatic inborn error of metabolism, identify the appropriate laboratory test for further investigation.