Methylmalonic acidemia/propionic acidemia – the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups

Methylmalonic acidemia/propionic acidemia – the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups

Abstract Background Most patients with isolated methylmalonic acidemia (MMA) /propionic acidemia (PA) presenting during the neonatal period with acute metabolic distress are at risk for death and significant neurodevelopmental disability. The nationwide newborn screening for MMA/PA has been in place...

Full description

Bibliographic Details
Main Authors: Tzu-Hung Chu, Yin-Hsiu Chien, Hsiang-Yu Lin, Hsuan-Chieh Liao, Huey-Jane Ho, Chih-Jou Lai, Chuan-Chi Chiang, Niang-Cheng Lin, Chia-Feng Yang, Wuh-Liang Hwu, Ni-Chung Lee, Shuan-Pei Lin, Chin-Su Liu, Rey-Heng Hu, Ming-Chih Ho, Dau-Ming Niu
Format: Article
Language:English
Published: BMC 2019-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Methylmalonic acidemia
Propionic acidemia
Newborn screening
Liver transplantation
Online Access:http://link.springer.com/article/10.1186/s13023-019-1045-1

Internet

http://link.springer.com/article/10.1186/s13023-019-1045-1

Similar Items