title: Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
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.
authors.forename: Matthias R
authors.initials: MR
authors.lastname: Baumgartner
authors.forename: Friederike
authors.initials: F
authors.lastname: Hörster
authors.forename: Carlo
authors.initials: C
authors.lastname: Dionisi-Vici
authors.forename: Goknur
authors.initials: G
authors.lastname: Haliloglu
authors.forename: Daniela
authors.initials: D
authors.lastname: Karall
authors.forename: Kimberly A
authors.initials: KA
authors.lastname: Chapman
authors.forename: Martina
authors.initials: M
authors.lastname: Huemer
authors.forename: Michel
authors.initials: M
authors.lastname: Hochuli
authors.forename: Murielle
authors.initials: M
authors.lastname: Assoun
authors.forename: Diana
authors.initials: D
authors.lastname: Ballhausen
authors.forename: Alberto
authors.initials: A
authors.lastname: Burlina
authors.forename: Brian
authors.initials: B
authors.lastname: Fowler
authors.forename: Sarah C
authors.initials: SC
authors.lastname: Grünert
authors.forename: Stephanie
authors.initials: S
authors.lastname: Grünewald
authors.forename: Tomas
authors.initials: T
authors.lastname: Honzik
authors.forename: Begoña
authors.initials: B
authors.lastname: Merinero
authors.forename: Celia
authors.initials: C
authors.lastname: Pérez-Cerdá
authors.forename: Sabine
authors.initials: S
authors.lastname: Scholl-Bürgi
authors.forename: Flemming
authors.initials: F
authors.lastname: Skovby
authors.forename: Frits
authors.initials: F
authors.lastname: Wijburg
authors.forename: Anita
authors.initials: A
authors.lastname: MacDonald
authors.forename: Diego
authors.initials: D
authors.lastname: Martinelli
authors.forename: Jörn Oliver
authors.initials: JO
authors.lastname: Sass
authors.forename: Vassili
authors.initials: V
authors.lastname: Valayannopoulos
authors.forename: Anupam
authors.initials: A
authors.lastname: Chakrapani
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000628:therapy*; D006801:Humans; D017410:Practice Guidelines as Topic; D056693:Propionic Acidemia / Q000175:diagnosis* / Q000628:therapy*