Title |
Guidelines for the diagnosis and management of cystathionine beta‐synthase deficiency
|
---|---|
Published in |
Journal of Inherited Metabolic Disease, October 2016
|
DOI | 10.1007/s10545-016-9979-0 |
Pubmed ID | |
Authors |
Andrew A. M. Morris, Viktor Kožich, Saikat Santra, Generoso Andria, Tawfeg I. M. Ben‐Omran, Anupam B. Chakrapani, Ellen Crushell, Mick J. Henderson, Michel Hochuli, Martina Huemer, Miriam C. H. Janssen, Francois Maillot, Philip D. Mayne, Jenny McNulty, Tara M. Morrison, Helene Ogier, Siobhan O'Sullivan, Markéta Pavlíková, Isabel Tavares de Almeida, Allyson Terry, Sufin Yap, Henk J. Blom, Kimberly A. Chapman |
Abstract |
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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Ireland | 3 | 12% |
United Kingdom | 2 | 8% |
Colombia | 1 | 4% |
United States | 1 | 4% |
Venezuela, Bolivarian Republic of | 1 | 4% |
Unknown | 15 | 58% |
Demographic breakdown
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Members of the public | 18 | 69% |
Practitioners (doctors, other healthcare professionals) | 5 | 19% |
Science communicators (journalists, bloggers, editors) | 1 | 4% |
Scientists | 1 | 4% |
Unknown | 1 | 4% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 275 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 35 | 13% |
Other | 27 | 10% |
Student > Master | 27 | 10% |
Researcher | 25 | 9% |
Student > Postgraduate | 18 | 7% |
Other | 55 | 20% |
Unknown | 88 | 32% |
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Biochemistry, Genetics and Molecular Biology | 37 | 13% |
Nursing and Health Professions | 15 | 5% |
Agricultural and Biological Sciences | 9 | 3% |
Pharmacology, Toxicology and Pharmaceutical Science | 9 | 3% |
Other | 38 | 14% |
Unknown | 98 | 36% |