@article{BaumgartnerHoersterDionisiVicietal.2014,
  author    = {Matthias R. Baumgartner and Friederike H{\"o}rster and Carlo Dionisi-Vici and Goknur Haliloglu and Daniela Karall and Kimberly A. Chapman and Martina Huemer and Michel Hochuli and Murielle Assoun and Diana Ballhausen and Alberto Burlina and Brian Fowler and Sarah C. Gr{\"u}nert and Stephanie Gr{\"u}newald and Tomas Honzik and Bego{\~n}a Merinero and Celia P{\´e}rez-Cerd{\´a} and Sabine Scholl-B{\"u}rgi and Flemming Skovby and Frits Wijburg and Anita MacDonald and Diego Martinelli and J{\"o}rn Oliver Sass and Vassili Valayannopoulos and Anupam Chakrapani},
  title     = {Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia},
  series   = {Orphanet Journal of Rare Diseases},
  volume    = {9},
  publisher = {BioMed Central},
  issn      = {1750-1172},
  doi       = {10.1186/s13023-014-0130-8},
  pages     = {130},
  year      = {2014},
  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 complications include chronic kidney disease almost exclusively in MMA and cardiomyopathy mainly in PA. Except for vitamin B12 responsive forms of MMA the outcome remains poor despite the existence of apparently effective therapy with a low protein diet and carnitine. This may be related to under recognition and delayed diagnosis due to nonspecific clinical presentation and insufficient awareness of health care professionals because of disease rarity.},
  language  = {en}
}