Biochemical Basis of Heterogeneity in Acute Presentations of Propionic Acidemia

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...

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Bibliographic Details
Published in:Indian journal of clinical biochemistry 2013-01, Vol.28 (1), p.95-97
Main Authors: Sindgikar, Seema Pavaman, Rao, Suchetha, Shenoy, Rathika D., Kamath, Nutan
Format: Article
Language:English
Subjects:
Acids
Amino acids
Biochemistry
Biomedical and Life Sciences
Biotin
Case Report
Chemistry/Food Science
Encephalitis
Life Sciences
Medical colleges
Metabolic disorders
Metronidazole
Microbiology
Pathology
Pediatrics
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Summary: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.
ISSN:0970-1915
0974-0422
DOI:10.1007/s12291-012-0218-7