TY  - JOUR
U1  - Wissenschaftlicher Artikel
A1  - Baumgartner, Matthias R.
A1  - Hörster, Friederike
A1  - Dionisi-Vici, Carlo
A1  - Haliloglu, Goknur
A1  - Karall, Daniela
A1  - Chapman, Kimberly A.
A1  - Huemer, Martina
A1  - Hochuli, Michel
A1  - Assoun, Murielle
A1  - Ballhausen, Diana
A1  - Burlina, Alberto
A1  - Fowler, Brian
A1  - Grünert, Sarah C.
A1  - Grünewald, Stephanie
A1  - Honzik, Tomas
A1  - Merinero, Begoña
A1  - Pérez-Cerdá, Celia
A1  - Scholl-Bürgi, Sabine
A1  - Skovby, Flemming
A1  - Wijburg, Frits
A1  - MacDonald, Anita
A1  - Martinelli, Diego
A1  - Sass, Jörn Oliver
A1  - Valayannopoulos, Vassili
A1  - Chakrapani, Anupam
T1  - Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
JF  - Orphanet Journal of Rare Diseases
N2  - 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.
KW  - Methylmalonic acidemia
KW  - Methylmalonic aciduria
KW  - Propionic acidemia
KW  - Propionic aciduria
KW  - Methylmalonyl-CoAmutase
KW  - Propionyl-CoA carboxylase
KW  - Vitamin B12/adenosylcobalamin
KW  - Biotin
KW  - Hyperammonemia
KW  - Metabolicdecompensation
KW  - Metabolic stroke (-like event)
KW  - Movement disorder
KW  - Seizures
KW  - Intellectual disability
Y1  - 2014
SN  - 1750-1172
SS  - 1750-1172
U6  - https://doi.org/10.1186/s13023-014-0130-8
DO  - https://doi.org/10.1186/s13023-014-0130-8
PM  - 25205257
VL  - 9
PB  - BioMed Central
ER  -