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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00064165:_____/14:10292952

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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

Název v anglickém jazyce

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

Popis výsledku anglicky

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

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

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Návaznosti

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Rok uplatnění

2014

Kód důvěrnosti údajů

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

Název periodika

Orphanet Journal of Rare Diseases

ISSN

1750-1172

e-ISSN

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Svazek periodika

9

Číslo periodika v rámci svazku

september

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

36

Strana od-do

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Kód UT WoS článku

000342595600001

EID výsledku v databázi Scopus

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