Biochemical Basis of Heterogeneity in Acute Presentations of Propionic Acidemia

Sindgikar, Seema Pavaman and Rao, Suchetha and Shenoy , Rathika D. and Kamath, Nutan (2012) Biochemical Basis of Heterogeneity in Acute Presentations of Propionic Acidemia. Indian Journal of Clinical Biochemistry.

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Abstract

Propionic acidemia (PA), an uncommon organic acidemia has varied clinical and metabolic presentation causing difficulty and delay in the diagnosis. We report a case of PA in an infant who presented with failure to thrive, acute encephalopathy due to severe hyperammonemia without acidosis and fungal sepsis. The biochemical basis of severe hyperammonemia is discussed.

Item Type: Article
Uncontrolled Keywords: Acute encephalopathy � Candida sepsis � Hyperammonemia � Ketoacidosis � Neutropenia
Subjects: Medicine > KMC Mangalore > Paediatrics
Depositing User: KMCMLR User
Date Deposited: 21 May 2012 10:33
Last Modified: 18 Aug 2012 10:21
URI: http://eprints.manipal.edu/id/eprint/76469

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