2014指南建议：甲基丙二酸血症与丙酸血症的诊断和管理.pdf

Baumgartner et al. Orphanet Journal of Rare Diseases 2014, 9:130 /content/9/1/130 REVIEW Open Access Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia 1*† 2† 7 10 13 Matthias R Baumgartner , Friederike Hörster , Carlo Dionisi-Vici , Goknur Haliloglu , Daniela Karall , 6 1 11 3 4 5 Kimberly A Chapman , Martina Huemer , Michel Hochuli , Murielle Assoun , Diana Ballhausen , Alberto Burlina , 1 8 9 12 16 16 Brian Fowler , Sarah C Grünert , Stephanie Grünewald , Tomas Honzik , Begoña Merinero , Celia Pérez-Cerdá , Sabine Scholl-Bürgi13, Flemming Skovby18, Frits Wijburg20, Anita MacDonald14, Diego Martinelli15, Jörn Oliver Sass17, Vassili Valayannopoulos19 and Anupam Chakrapani21* Abstract Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism characterized by accumulation of propionic acid and/or methylmalonic acid due to deficiency of methylmalonyl-CoA mutase (MUT) or propionyl-CoA carboxylase (PCC). MMA has an estimated incidence of ~ 1: 50,000 and PA of ~ 1:100’000 -150,000. Patients present either shortly after birth with acute deterioration, metabolic acidosis and hyperammonemia or later at any age with a more heterogeneous clinical picture, leading to early death or to severe neurological handicap in many survivors. Mental outcome tends to be worse in PA and late compl