Dr Emma Glamuzina returned to New Zealand in 2011 after completing training and working as a consultant at Great Ormond Street Hospital for Children in London, to become the second consultant for the Adult and Paediatric National Metabolic Service. She is a general metabolic physician, looking after both adults and children, with a focus on excellence of clinical care for all metabolic families across the country. She has a particular interest in neuro-metabolic, mitochondrial disease and undiagnosed patients.
Inborn Errors Of Metabolism: Diseases That Last A Lifetime
Inborn errors of metabolism are individually rare, but collectively common, genetic disorders that can present to multiple different specialties across the life span. The advent of expanded newborn screening (NBS), improved next generation sequencing and other diagnostic techniques as well as our general understanding of these conditions has led to earlier diagnosis, improved treatment strategies and associated improved survival. NBS in particular has also broadened our appreciation of the spectrum of presentations within the same disease, rightly or wrongly, increasing our ability to diagnose adult-onset disease in the newborn period. Accordingly, there is a growing need for an improved lifespan approach to patient care and for adult metabolic services to be available worldwide, to care for these patients that once died prior to transition. This presentation will provide a basic overview of IEMs, the growing adult population and give examples of some common and less common presentations of these rare but fascinating diseases.