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

Result code in 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>

Alternative codes found

RIV/00064165:_____/17:10361763

Result on the web

<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>

Result language

angličtina

Original language name

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

Original language description

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.

Czech name

—

Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30202 - Endocrinology and metabolism (including diabetes, hormones)

Project

—

Continuities

N - Vyzkumna aktivita podporovana z neverejnych zdroju

Publication year

2017

Confidentiality

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

Name of the periodical

Journal of Inherited Metabolic Disease

ISSN

0141-8955

e-ISSN

—

Volume of the periodical

40

Issue of the periodical within the volume

1

Country of publishing house

NL - THE KINGDOM OF THE NETHERLANDS

Number of pages

26

Pages from-to

49-74

UT code for WoS article

000391132500005

EID of the result in the Scopus database

2-s2.0-84992205928