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

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 unrestri...

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Veröffentlicht in:	Molecular genetics and metabolism 2019-12, Vol.128 (4), p.431-443
Hauptverfasser:	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.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Alleles Amino Acid Metabolism, Inborn Errors - diagnosis Amino Acid Metabolism, Inborn Errors - genetics Amino Acid Metabolism, Inborn Errors - mortality Amino Acid Metabolism, Inborn Errors - therapy Biomarkers Child Child, Preschool Follow-Up Studies Genotype Hospitalization Humans Infant Infant, Newborn Liver Function Tests Liver transplantation Liver Transplantation - adverse effects Liver Transplantation - methods Magnetic Resonance Imaging Methylmalonic acidemia Mutation Organic acidemia Phenotype Prognosis Propionic acidemia Propionic Acidemia - diagnosis Propionic Acidemia - genetics Propionic Acidemia - mortality Propionic Acidemia - therapy Retrospective Studies
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