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

Baumgartner, M.; Hörster, F.; Dionisi-Vici, C.; Haliloglu, G.; Karall, D.; Chapman, K.; Huemer, M.; Hochuli, M.; Assoun, M.; Ballhausen, D.; Burlina, A.; Fowler, B.; Grünert, S.; Grünewald, S.; Honzík, T.; Merinero, B.; Pérez‐Cerdá, C.; Scholl-Bürgi, S.; Skovby, F.; Wijburg, F.; Macdonald, A.; Martinelli, D.; Sass, J.; Valayannopoulos, V.; Chakrapani, A.

doi:10.1186/s13023-014-0130-8

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

Shared by NobleBlocks on Sep 2, 2014 • 12:00 AM UTC

Authors:

M. Baumgartner

F. Hörster

C. Dionisi-Vici

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:...

Subject

Medicine

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