Biochemical basis of heterogeneity in acute presentations of propionic acidemia

Seema Pavaman Sindgikar; Suchetha Rao; Rathika D. Shenoy; Nutan Kamath

doi:10.1007/s12291-012-0218-7

Biochemical basis of heterogeneity in acute presentations of propionic acidemia

Seema Pavaman Sindgikar^*
, Suchetha Rao
, Rathika D. Shenoy
, Nutan Kamath

^*Corresponding author for this work

Department of Paediatrics, Kasturba Medical College, Mangalore

Research output: Contribution to journal › Article › peer-review

6 Citations (Scopus)

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.

Original language	English
Pages (from-to)	95-97
Number of pages	3
Journal	Indian Journal of Clinical Biochemistry
Volume	28
Issue number	1
DOIs	https://doi.org/10.1007/s12291-012-0218-7
Publication status	Published - 01-01-2013

All Science Journal Classification (ASJC) codes

Clinical Biochemistry

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10.1007/s12291-012-0218-7

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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.",

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AB - 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.

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Biochemical basis of heterogeneity in acute presentations of propionic acidemia

Abstract

All Science Journal Classification (ASJC) codes

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