Biochemical basis of heterogeneity in acute presentations of propionic acidemia

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

Research output: Contribution to journalArticle

2 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 languageEnglish
Pages (from-to)95-97
Number of pages3
JournalIndian Journal of Clinical Biochemistry
Volume28
Issue number1
DOIs
Publication statusPublished - 01-01-2013

All Science Journal Classification (ASJC) codes

  • Clinical Biochemistry

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