Propionic acidemia mimicking diabetic ketoacidosis

Brain & Development
Imad M DweikatBassam Y Abu Libdeh

Abstract

Propionic acidemia manifesting with hyperglycemia is rare. Few cases have been reported mainly of the neonatal-onset form associated with high mortality. We report a 9-month-old Palestinian boy who manifested with coma, severe hyperglycemia and ketoacidosis mimicking diabetic ketoacidosis. Family history of unexplained infant deaths was helpful in reaching the correct diagnosis. In response to therapy, the patient regained consciousness without neurologic deficits and had normal examination. This is, to our knowledge, the first case report of late-onset propionic acidemia that had this presentation and survived.

References

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Apr 8, 2006·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Federica DeodatoCarlo Dionisi-Vici

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Citations

Sep 11, 2014·Orphanet Journal of Rare Diseases·Matthias R BaumgartnerAnupam Chakrapani
Nov 19, 2015·Journal of Pediatric Endocrinology & Metabolism : JPEM·Prapai DejkhamronDuangrurdee Wattanasirichaigoon
Apr 25, 2015·International Journal of Obesity : Journal of the International Association for the Study of Obesity·H-H ChenP-H Kuo
Apr 14, 2015·Gene·Hatem Zayed
Mar 20, 2013·Journal of Pediatric Endocrinology & Metabolism : JPEM·Muhammad Rafique
Mar 3, 2020·Journal of Inherited Metabolic Disease·Sofiya GanchevaRegina Ensenauer
Nov 6, 2018·Journal of Human Genetics·Toshiyuki FukaoElsayed Abdelkreem

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