title: Biochemical basis of heterogeneity in acute presentations of propionic acidemia.
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.
authors.affiliation: Department of Pediatrics, K. S. Hegde Medical Academy, NITTE University, Derlakatte, Mangalore, 575 018 Karnataka India.
authors.forename: Seema Pavaman
authors.initials: SP
authors.lastname: Sindgikar
authors.affiliation: Kasturba Medical College, Mangalore, India.
authors.forename: Suchetha
authors.initials: S
authors.lastname: Rao
authors.affiliation: Department of Pediatrics, K. S. Hegde Medical Academy, NITTE University, Derlakatte, Mangalore, 575 018 Karnataka India.
authors.forename: Rathika D
authors.initials: RD
authors.lastname: Shenoy
authors.affiliation: Kasturba Medical College, Mangalore, India.
authors.forename: Nutan
authors.initials: N
authors.lastname: Kamath
keywords: Acute encephalopathy; Candida sepsis; Hyperammonemia; Ketoacidosis; Neutropenia