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The Adult Genetic Metabolic Disorders Service (AGMDS), based at Westmead Hospital, provides specialised care for adults with inborn errors of metabolism. These genetic disorders are rare, however collectively the service now looks after more than five hundred individuals. The majority of these patients have transitioned from paediatric services, although the diagnosis of an inborn error of metabolism is not infrequently made in adulthood.
The AGMDS is also the NSW centre of expertise for the lysosomal storage disorders and coordinates enzyme replacement therapy and overall monitoring for around one hundred patients with this group of disorders.
Dr Michael Tchan
Dr Jane Holmes-Walker