Future Role of the Advanced Practitioner with Adult Metabolic Medicine Diane Green Mark Holland Metabolic Unit Salford Royal NHS Foundation Trust
Mark Holland Metabolic Unit National specialist service managing the care of adult patients with inborn errors of metabolism
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
Growing up – reaching adulthood
Next generation
Trying to make paediatric research care fit adults
Evidence http://www.nature.com/nm/e-poster/images/Liver-Organ-Normal.jpg
Treatment - diet
Currently planned role
Triage of new patients
Autonomous management diet controlled conditions GSD
Telehealth and satellite clinics
Decompensation and in-patient management
Pregnancy Management
Enteral Feeding Management
Case Reports