%0 Journal Article %A Buthaina Buzakuk %A Judith van der Voort %T Metabolic mayhem. The advantage of keeping your nose both in the books and in the nappy! %D 2022 %R 10.1136/archdischild-2019-318477 %J Archives of disease in childhood - Education & practice edition %P 150-155 %V 107 %N 2 %X 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. %U https://ep.bmj.com/content/edpract/107/2/150.full.pdf