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

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F14%3A10292952" target="_blank" >RIV/00216208:11110/14:10292952 - isvavai.cz</a>

Alternative codes found

RIV/00064165:_____/14:10292952

Result on the web

<a href="http://dx.doi.org/10.1186/s13023-014-0130-8" target="_blank" >http://dx.doi.org/10.1186/s13023-014-0130-8</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1186/s13023-014-0130-8" target="_blank" >10.1186/s13023-014-0130-8</a>

Result language

angličtina

Original language name

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

Original language description

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 similar to 1: 50,000 and PA of similar to 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 B-12responsive 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 prese

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

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Continuities

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Publication year

2014

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Orphanet Journal of Rare Diseases

ISSN

1750-1172

e-ISSN

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Volume of the periodical

9

Issue of the periodical within the volume

september

Country of publishing house

GB - UNITED KINGDOM

Number of pages

36

Pages from-to

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UT code for WoS article

000342595600001

EID of the result in the Scopus database

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