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

Details

Ressource 1Download: BIB_1C7084B4C685.P001.pdf (2679.13 [Ko])
State: Public
Version: author
Serval ID
serval:BIB_1C7084B4C685
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
Journal
Orphanet Journal of Rare Diseases
Author(s)
Baumgartner M.R., Hörster F., Dionisi-Vici C., Haliloglu G., Karall D., Chapman K.A., Huemer M., Hochuli M., Assoun M., Ballhausen D., Burlina A., Fowler B., Grünert S.C., Grünewald S., Honzik T., Merinero B., Pérez-Cerdá C., Scholl-Bürgi S., Skovby F., Wijburg F., MacDonald A., Martinelli D., Sass J.O., Valayannopoulos V., Chakrapani A.
ISSN
1750-1172 (Electronic)
ISSN-L
1750-1172
Publication state
Published
Issued date
2014
Peer-reviewed
Oui
Volume
9
Number
1
Pages
130
Language
english
Notes
Publication types: Journal Article Publication Status: epublish, pdf=review
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.
Pubmed
Web of science
Open Access
Yes
Create date
30/10/2014 17:28
Last modification date
20/08/2019 12:52
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