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 |
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Uncontrolled Keywords: | Acute encephalopathy � Candida sepsis � Hyperammonemia � Ketoacidosis � Neutropenia |
Subjects: | Medicine > KMC Mangalore > Paediatrics |
Depositing User: | KMCMLR User |
Date Deposited: | 18 Aug 2012 10:19 |
Last Modified: | 18 Aug 2012 10:19 |
URI: | http://eprints.manipal.edu/id/eprint/77055 |
Available Versions of this Item
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Biochemical Basis of Heterogeneity in Acute Presentations of Propionic Acidemia. (deposited 21 May 2012 10:33)
- Biochemical Basis of Heterogeneity in Acute Presentations of Propionic Acidemia. (deposited 18 Aug 2012 10:19) [Currently Displayed]
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