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Proposed guidelinesfor the diagnosis andmanagement ofmethylmalonic andpropionic acidemia Matthias R. BaumgartnerFriederike HörsterCarlo Dionisi‐Vici2014 год

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

Полный текстСтраница публикацииПубликация в OpenAlex
Аннотация: 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.
Год издания: 2014
Авторы: Matthias R. Baumgartner, Friederike Hörster, Carlo Dionisi‐Vici, Göknur Haliloğlu, Daniela Karall, Kimberly A. Chapman, Martina Huemer, Michel Hochuli, Murielle Assoun, Diana Ballhausen, Alberto Burlina, Brian Fowler, Sarah C. Grünert, Stephanie Grünewald, Tomáš Honzík, B. Merinero, Celia Pérez‐Cerdá, Sabine Scholl‐Bürgi, Flemming Skovby, Frits A. Wijburg, Anita MacDonald, Diego Martinelli, Jörn Oliver Sass, Vassili Valayannopoulos, Anupam Chakrapani
Издательство: BioMed Central
Источник: Orphanet Journal of Rare Diseases
Ключевые слова: Metabolism and Genetic Disorders, Diet and metabolism studies, Folate and B Vitamins Research
Другие ссылки: Orphanet Journal of Rare Diseases (PDF)
Orphanet Journal of Rare Diseases (HTML)
Hacettepe University Institutional Repository (hacettepe.edu.tr) (PDF)
Hacettepe University Institutional Repository (hacettepe.edu.tr) (HTML)
SERVAL (Université de Lausanne) (PDF)
SERVAL (Université de Lausanne) (HTML)
Zurich Open Repository and Archive (University of Zurich) (HTML)
heiDOK (Heidelberg University) (HTML)
PubMed Central (HTML)
PubMed (HTML)