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Metabolic mayhem. The advantage of keeping your nose both in the books and in the nappy!
  1. Buthaina Buzakuk1,
  2. Judith van der Voort2
  1. 1 Paediatrics and Paediatric Gastroenterology, Swansea Bay University Health Board, Swansea, Neath Port Talbot, UK
  2. 2 Paediatric Nephrology, Cardiff and Vale University Health Board, Cardiff, UK
  1. Correspondence to Dr Judith van der Voort, Paediatric Nephrology, Cardiff and Vale University Health Board, Cardiff CF14 4XW, UK; jhvandervoort{at}


This case presentation takes you on a journey of diagnostic hurdles, covering a common neonatal presentation: abdominal distention with failure to pass meconium, followed by a presentation in infancy with metabolic, renal and electrolyte abnormalities. The article provides a systematic approach to the different clinical problems, allowing interpretation of results, making differential diagnoses and deciding on investigations and management.

  • metabolic
  • gastroenterology
  • nephrology

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  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Commissioned; externally peer reviewed.