Article
Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.
Molecular genetics and metabolism - 1 Dec 2019
Pillai Nishitha R, Stroup Bridget M, Poliner Anna, Rossetti Linda, Rawls Brandy, Shayota Brian J, Soler-Alfonso Claudia, Tunuguntala Hari Priya, Goss John, Craigen William, Scaglia Fernando, Sutton V Reid, Himes Ryan Wallace, Burrage Lindsay C
Abstract excerpt
BACKGROUND: Organic acidemias, especially propionic acidemia (PA) and methylmalonic acidemia (MMA), may manifest clinically within the first few hours to days of life. The classic presentation in the newborn period includes metabolic acidosis, hyperlactatemia, and hyperammonemia that is precipitated by unrestricted protein intake. Implementation of newborn screening to diagnose and initiate early treatment has...
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