The Turkish Journal of Pediatrics 2002 , Vol 44 , Num 4
Neonatal onset propionic acidemia without acidosis: a case report
1Department of Pediatrics, Marmara University Faculty of Medicine, Istanbul, Turkey, and
2Department of Pediatrics, Istanbul University Istanbul Faculty of Medicine, Istanbul, Turkey
Akman İ, İmamoğlu S, Demirkol M, Alpay H, Özek E. Neonatal onset propionic acidemia without acidosis: a case report. Turk J Pediatr 2002; 44: 339-342.

Propionic acidemia is an inherited disorder of organic acid metabolism characterized by a spectrum of clinical and biochemical findings. The usual presentation is life-threatening ketoacidosis and hyperammonemia. In this report we present a neonate with propionic acidemia presenting with prominent neurologic problems without ketoacidosis. The patient had a serum ammonia level of 3.500 g/dl which was effectively lowered to normal values in 48 hours by peritoneal dialysis, with remarkable improvement in neurologic status. However, she developed Candida albicans peritonitis and sepsis and died of cardiorespiratory failure. Infants who have an early onset propionic academia have a high mortality and morbidity rate. In conclusion, propionic academia should be in the differential diagnosis of patients with neurologic symptoms and hyperammonemia with or without acidosis.

Keywords : propionic academia, neonate, peritoneal dialysis

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