Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F17%3A10361763" target="_blank" >RIV/00216208:11110/17:10361763 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064165:_____/17:10361763

Výsledek na webu

<a href="http://dx.doi.org/10.1007/s10545-016-9979-0" target="_blank" >http://dx.doi.org/10.1007/s10545-016-9979-0</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1007/s10545-016-9979-0" target="_blank" >10.1007/s10545-016-9979-0</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency

Popis výsledku v původním jazyce

Cystathionine beta-synthase (CBS) deficiency is a rare inherited disorder in the methionine catabolic pathway, in which the impaired synthesis of cystathionine leads to accumulation of homocysteine. Patients can present to many different specialists and diagnosis is often delayed. Severely affected patients usually present in childhood with ectopia lentis, learning difficulties and skeletal abnormalities. These patients generally require treatment with a low-methionine diet and/or betaine. In contrast, mildly affected patients are likely to present as adults with thromboembolism and to respond to treatment with pyridoxine. In this article, we present recommendations for the diagnosis and management of CBS deficiency, based on a systematic review of the literature. Unfortunately, the quality of the evidence is poor, as it often is for rare diseases. We strongly recommend measuring the plasma total homocysteine concentrations in any patient whose clinical features suggest the diagnosis. Our recommendations may help to standardise testing for pyridoxine responsiveness. Current evidence suggests that patients are unlikely to develop complications if the plasma total homocysteine concentration is maintained below 120 mu mol/L. Nevertheless, we recommend keeping the concentration below 100 mu mol/L because levels fluctuate and the complications associated with high levels are so serious.

Název v anglickém jazyce

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency

Popis výsledku anglicky

Cystathionine beta-synthase (CBS) deficiency is a rare inherited disorder in the methionine catabolic pathway, in which the impaired synthesis of cystathionine leads to accumulation of homocysteine. Patients can present to many different specialists and diagnosis is often delayed. Severely affected patients usually present in childhood with ectopia lentis, learning difficulties and skeletal abnormalities. These patients generally require treatment with a low-methionine diet and/or betaine. In contrast, mildly affected patients are likely to present as adults with thromboembolism and to respond to treatment with pyridoxine. In this article, we present recommendations for the diagnosis and management of CBS deficiency, based on a systematic review of the literature. Unfortunately, the quality of the evidence is poor, as it often is for rare diseases. We strongly recommend measuring the plasma total homocysteine concentrations in any patient whose clinical features suggest the diagnosis. Our recommendations may help to standardise testing for pyridoxine responsiveness. Current evidence suggests that patients are unlikely to develop complications if the plasma total homocysteine concentration is maintained below 120 mu mol/L. Nevertheless, we recommend keeping the concentration below 100 mu mol/L because levels fluctuate and the complications associated with high levels are so serious.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30202 - Endocrinology and metabolism (including diabetes, hormones)

Projekt

—

Návaznosti

N - Vyzkumna aktivita podporovana z neverejnych zdroju

Rok uplatnění

2017

Kód důvěrnosti údajů

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

Název periodika

Journal of Inherited Metabolic Disease

ISSN

0141-8955

e-ISSN

—

Svazek periodika

40

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

NL - Nizozemsko

Počet stran výsledku

26

Strana od-do

49-74

Kód UT WoS článku

000391132500005

EID výsledku v databázi Scopus

2-s2.0-84992205928