An unusual case of severe high anion gap metabolic acidosis

We present a case of high anion gap metabolic acidosis with an unusual aetiology in a 75-year-old lady with hypoglycaemia, encephalopathy and relatively preserved renal function. Full toxicology and biochemical analysis suggested that she had an inborn error of metabolism, riboflavin-responsive mult...

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Detalles Bibliográficos
Autores principales: Bavakunji, Riaz V., Turner, Jake D., Jujjavarapu, Sagar, Taal, Maarten W., Fluck, Richard J., Leung, Janson C., Kolhe, Nitin V., Selby, Nicholas M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2011
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421581/
https://www.ncbi.nlm.nih.gov/pubmed/25984120
http://dx.doi.org/10.1093/ndtplus/sfr009
Descripción
Sumario:We present a case of high anion gap metabolic acidosis with an unusual aetiology in a 75-year-old lady with hypoglycaemia, encephalopathy and relatively preserved renal function. Full toxicology and biochemical analysis suggested that she had an inborn error of metabolism, riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency that can predispose to severe acidosis in situations where calorific intake is reduced. We believe this to be one of the few published cases and is remarkable for the presentation in late adulthood in addition to the requirement for emergency haemodialysis due to the severity of the metabolic disturbance.

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