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Future Role of the Advanced Practitioner with Adult Metabolic Medicine
Diane Green Mark Holland Metabolic Unit Salford Royal NHS Foundation Trust
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Mark Holland Metabolic Unit
National specialist service managing the care of adult patients with inborn errors of metabolism
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Metabolic Conditions seen
Disorders of amino acid and peptide metabolism Disorders of carbohydrate metabolism Disorders of fatty acid and ketone body metabolism Disorders of energy metabolism Disorders in the metabolism of purines, pyrimidines and nucleotides Disorders of the metabolism of sterols Disorders of porphyrin and haem metabolism Disorders of lipid and lipoprotein metabolism Congenital disorders of glycosylation and other disorders of protein modification Lysosomal disorders Peroxisomal disorders Disorders and variants in the metabolism of xenobiotics Disorders of neurotransmitter metabolism Disorders in the metabolism of vitamins and (non-protein) cofactors Disorders in the metabolism of trace elements and metals Total of 698 conditions
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Growing up – reaching adulthood
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Next generation
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Trying to make paediatric research care fit adults
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Evidence
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Treatment - diet
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Currently planned role
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Triage of new patients
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Autonomous management diet controlled conditions
GSD
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Telehealth and satellite clinics
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Decompensation and in-patient management
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Pregnancy Management
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Enteral Feeding Management
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Case Reports
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