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Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

  • 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.

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Document Type:Article
Author:Matthias R. Baumgartner, Friederike Hörster, Carlo Dionisi-Vici, Goknur Haliloglu, Daniela Karall, Kimberly A. Chapman, Martina Huemer, Michel Hochuli, Murielle Assoun, Diana Ballhausen, Alberto Burlina, Brian Fowler, Sarah C. Grünert, Stephanie Grünewald, Tomas Honzik, Begoña Merinero, Celia Pérez-Cerdá, Sabine Scholl-Bürgi, Flemming Skovby, Frits Wijburg, Anita MacDonald, Diego Martinelli, Jörn Oliver Sass, Vassili Valayannopoulos, Anupam Chakrapani
Parent Title (English):Orphanet Journal of Rare Diseases
Article Number:130
Publisher:BioMed Central
Date of first publication:2014/09/02
Copyright:© 2014 Baumgartner et al. This is an Open Access article distributed under the terms of theCreative Commons Attribution License.
Keyword:Biotin; Hyperammonemia; Intellectual disability; Metabolic stroke (-like event); Metabolicdecompensation; Methylmalonic acidemia; Methylmalonic aciduria; Methylmalonyl-CoAmutase; Movement disorder; Propionic acidemia; Propionic aciduria; Propionyl-CoA carboxylase; Seizures; Vitamin B12/adenosylcobalamin
Departments, institutes and facilities:Institut für funktionale Gen-Analytik (IFGA)
Dewey Decimal Classification (DDC):6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Entry in this database:2018/08/18
Licence (German):License LogoCreative Commons - CC BY - Namensnennung 4.0 International