TY - JOUR
T1 - Biochemical basis of heterogeneity in acute presentations of propionic acidemia
AU - Sindgikar, Seema Pavaman
AU - Rao, Suchetha
AU - Shenoy, Rathika D.
AU - Kamath, Nutan
PY - 2013/1/1
Y1 - 2013/1/1
N2 - 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.
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.
UR - http://www.scopus.com/inward/record.url?scp=84872687780&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84872687780&partnerID=8YFLogxK
U2 - 10.1007/s12291-012-0218-7
DO - 10.1007/s12291-012-0218-7
M3 - Article
AN - SCOPUS:84872687780
SN - 0970-1915
VL - 28
SP - 95
EP - 97
JO - Indian Journal of Clinical Biochemistry
JF - Indian Journal of Clinical Biochemistry
IS - 1
ER -