Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.

ABSTRACT:

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 facilitated a reduction in neonatal mortality and improved survival. Despite early diagnosis and appropriate management, these individuals are prone to have recurrent episodes of metabolic acidosis and hyperammonemia resulting in frequent hospitalizations. Liver transplantation (LT) has been proposed as a treatment modality to reduce metabolic decompensations which are not con

SUBMITTER: Pillai NR 

PROVIDER: S-EPMC6898966 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature