Diabetes and Endocrinology
Statewide Adult Genetic Metabolic Diseases Service
The success of metabolic screening in neonates is reflected in children with metabolic disease successfully reaching adulthood. Since screening was established thirty years ago many children have now reached adulthood and require an adult service to better address their future medical needs. In 1997 the first patients were transferred from the children's hospital at Westmead to the adult hospital service at Westmead hospital. As the service has expanded we now also see patients who have reached adulthood but did not receive the benefits of treatment from initiation of treatment in the newborn period.
As our understanding of the biochemical basis of genetic disease expands so do our treatment options expand.
The aim of the Adult Genetic Metabolic Disease Service is to:
- Document and improve long term health outcomes in adults with metabolic disorders
- Prevent sequelae of PKU in the offspring of mothers with PKU
- To provide a pre-pregnancy planning service for adults with genetic metabolic disease
- Facilitate transfer from paediatric to adult services
- Co-ordinate dietary and medical management and co-ordinate ongoing monitoring of all aspects of metabolic disease
- Provide acute hospital management of genetic metabolic disease where required
- Prevent loss to follow up
- Realise the long term economic benefits of screening for metabolic disorders
- Provide a clinical base for future technologies of gene transfer
- Assist in research of new therapies for management of metabolic disease
- Act as a Statewide referral Service/Centre of Excellence
The Adult Genetic Metabolic Statewide service based at Westmead hospital is run by Dr Jane Holmes-Walker. The clinics are held fortnightly on a Wednesday afternoon.
We have two dietitians specifically trained in genetic metabolic disease, Mary Westbrook and Renee Mallon. We presently manage over 100 patients born with inherited defects of metabolism, the largest group being patients with PKU. We also have patients with other disorders of protein metabolism including urea cycle defects, amino-acidopathies (non-PKU) galactosemia and a number with mitochondrial disorders.
Clinics are held in the diabetes centre at Westmead as this enables patients to interact in a friendly environment and smooths the transition to the adult service after many years in the paediatric hospital. We liaise closely with the doctors and dietitians at the Children's Hospital when you move to the adult clinic. Where possible we can integrate care with local physicians for those living in remote areas.
We provide adult education evenings on a wide variety of topics of interest to adults twice per year
Venue DEACC, Level 1 CD block Westmead Hospital
Appointments: through the diabetes centre 9845 6466
Referrals from your local doctor to Dr Jane Holmes-Walker
