Metabolic Curriculum

This version of the curriculum has been modified by the London Specialty School of Paediatrics for use by local trainers. It identifies which competencies will be provided on regional training days, on simulation courses and compulsory training courses as part of the training package. All competencies in black font have been identified as competencies trainees are expected to obtain in their local trusts, by clinical experience or by local teaching programmes.

Red – regional training

Blue – simulation

Green – external courses

Black – local learning

Level of Training / Knowledge / Skills
Level 1 / know the common clinical presentations of metabolic disease including encephalopathy, neurodevelopmental regression, muscle weakness, visceromegaly and faltering growth
know when it is appropriate to perform metabolic investigations in neonates and children
know the appropriate screening investigations that should be performed when a metabolic disorder is suspected
know further investigations that should be performed in order to establish a diagnosis of a metabolic disorder
know about the common biochemical findings in an acutely ill newborn or child presenting with metabolic disease, including hypoglycaemia, hyperammonaemia or metabolic acidosis
understand when it is appropriate to investigate, and which investigations to perform, in a neonate or child with visceromegaly.
know the causes of metabolic bone disease and investigations to differentiate between the causes
know when it is appropriate to consider porphyria in a child presenting with abdominal pain
understand the principles of dietary, vitamin and pharmacological treatment of metabolic disorders
be aware of those metabolic disorders which are vitamin responsive or responsive to pharmacological treatment
know about the metabolic disorders which may respond to enzyme therapy or bone marrow transplantation
know the routine neonatal screening tests for metabolic disease
know the inheritance patterns of common genetically determined metabolic disorders
know about the educational and social implications of metabolic disorders and the importance of organising support in the community for special diets and other risks / be able to interpret commonly used investigations and understand how these differentiate between metabolic disorders including those that result in cot death
recognize the clinical and biochemical features of electrolyte and acid base disturbances
be able to explain the routine neonatal screening tests for metabolic disease to parents*
Level 2 / know what samples must be taken in metabolic investigations at the time of presentation and the importance of liaison with laboratories to ensure use of the appropriate container, handling and storage
know which metabolic disorders are associated with learning difficulties and arrange timely referral for those at risk* / recognize and be able to manage the clinical and biochemical features of electrolyte and acid base disturbances
be able to initiate metabolic investigations in neonates and children and in urgent situations