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

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...

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Autores principales: Morris, Andrew A. M., Kožich, Viktor, Santra, Saikat, Andria, Generoso, Ben-Omran, Tawfeg I. M., Chakrapani, Anupam B., Crushell, Ellen, Henderson, Mick J., Hochuli, Michel, Huemer, Martina, Janssen, Miriam C. H., Maillot, Francois, Mayne, Philip D., McNulty, Jenny, Morrison, Tara M., Ogier, Helene, O’Sullivan, Siobhan, Pavlíková, Markéta, de Almeida, Isabel Tavares, Terry, Allyson, Yap, Sufin, Blom, Henk J., Chapman, Kimberly A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5203861/
https://www.ncbi.nlm.nih.gov/pubmed/27778219
http://dx.doi.org/10.1007/s10545-016-9979-0
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author Morris, Andrew A. M.
Kožich, Viktor
Santra, Saikat
Andria, Generoso
Ben-Omran, Tawfeg I. M.
Chakrapani, Anupam B.
Crushell, Ellen
Henderson, Mick J.
Hochuli, Michel
Huemer, Martina
Janssen, Miriam C. H.
Maillot, Francois
Mayne, Philip D.
McNulty, Jenny
Morrison, Tara M.
Ogier, Helene
O’Sullivan, Siobhan
Pavlíková, Markéta
de Almeida, Isabel Tavares
Terry, Allyson
Yap, Sufin
Blom, Henk J.
Chapman, Kimberly A.
author_facet Morris, Andrew A. M.
Kožich, Viktor
Santra, Saikat
Andria, Generoso
Ben-Omran, Tawfeg I. M.
Chakrapani, Anupam B.
Crushell, Ellen
Henderson, Mick J.
Hochuli, Michel
Huemer, Martina
Janssen, Miriam C. H.
Maillot, Francois
Mayne, Philip D.
McNulty, Jenny
Morrison, Tara M.
Ogier, Helene
O’Sullivan, Siobhan
Pavlíková, Markéta
de Almeida, Isabel Tavares
Terry, Allyson
Yap, Sufin
Blom, Henk J.
Chapman, Kimberly A.
author_sort Morris, Andrew A. M.
collection PubMed
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 μmol/L. Nevertheless, we recommend keeping the concentration below 100 μmol/L because levels fluctuate and the complications associated with high levels are so serious.
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spelling pubmed-52038612017-01-18 Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency Morris, Andrew A. M. Kožich, Viktor Santra, Saikat Andria, Generoso Ben-Omran, Tawfeg I. M. Chakrapani, Anupam B. Crushell, Ellen Henderson, Mick J. Hochuli, Michel Huemer, Martina Janssen, Miriam C. H. Maillot, Francois Mayne, Philip D. McNulty, Jenny Morrison, Tara M. Ogier, Helene O’Sullivan, Siobhan Pavlíková, Markéta de Almeida, Isabel Tavares Terry, Allyson Yap, Sufin Blom, Henk J. Chapman, Kimberly A. J Inherit Metab Dis Guidelines 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 μmol/L. Nevertheless, we recommend keeping the concentration below 100 μmol/L because levels fluctuate and the complications associated with high levels are so serious. Springer Netherlands 2016-10-24 2017 /pmc/articles/PMC5203861/ /pubmed/27778219 http://dx.doi.org/10.1007/s10545-016-9979-0 Text en © The Author(s) 2016 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
spellingShingle Guidelines
Morris, Andrew A. M.
Kožich, Viktor
Santra, Saikat
Andria, Generoso
Ben-Omran, Tawfeg I. M.
Chakrapani, Anupam B.
Crushell, Ellen
Henderson, Mick J.
Hochuli, Michel
Huemer, Martina
Janssen, Miriam C. H.
Maillot, Francois
Mayne, Philip D.
McNulty, Jenny
Morrison, Tara M.
Ogier, Helene
O’Sullivan, Siobhan
Pavlíková, Markéta
de Almeida, Isabel Tavares
Terry, Allyson
Yap, Sufin
Blom, Henk J.
Chapman, Kimberly A.
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
title Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
title_full Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
title_fullStr Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
title_full_unstemmed Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
title_short Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
title_sort guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
topic Guidelines
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5203861/
https://www.ncbi.nlm.nih.gov/pubmed/27778219
http://dx.doi.org/10.1007/s10545-016-9979-0
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