Education - Case Studies

Case studies aim to help us to increase our knowledge of inborn errors. If wish to submit a suitably anonymised submission it will be gratefully received and acknowledged - contact us if you wish to submit a case study.

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Case Studies


A baby boy was transferred to a tertiary metabolic centre for the investigation and management of severe hyperammonaemia.


A 3 month old boy presented to the local hospital with an acute life threatening event associated with an upper respiratory infection


A 3 year old boy was referred to a tertiary centre for investigation of hepatosplenomegaly and failure to thrive.


A three week old baby girl was transferred to a paediatric ITU with multisystemic collapse requiring ventilatory and fluid support.


A four week old breast fed baby boy presented with poor feeding and weight loss


A four year old boy was seen for a preschool assessment of educational need