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Cited by 340Folate and B Vitamins ResearchMetabolism and Genetic DisordersBiochemical and Molecular Research

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

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Morris, Andrew A. M., Kožich, Viktor, Santra, Saikat, Andria, Generoso, Ben‐Omran, Tawfeg I. M., Chakrapani, Anupam B., Crushell, Ellen, Henderson, Mick J. +15 more·2017·Journal of Inherited Metabolic Disease
DOI 10.1007/s10545-016-9979-0PMC PMC5203861
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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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Cited by

Sorted by citations

Authors
Morris, A. A. M., Kožich, V., Santra, S., Andria, G., Ben‐Omran, T. I. M., Chakrapani, A. B., Crushell, E., Henderson, M. J., Hochuli, M., Huemer, M., Janssen, M. C. H., Maillot, F., Mayne, P. D., McNulty, J., Morrison, T. M., Ogier, H., O'Sullivan, S., Pavlíková, M., de Almeida, I. T., Terry, A., Yap, S., Blom, H. J., & Chapman, K. A.
Affiliations
  • University of Manchester (GB)
  • Charles University (CZ)
  • Birmingham Children's Hospital (GB)
  • Federico II University Hospital (IT)
  • Hamad Medical Corporation (QA)
  • Great Ormond Street Hospital (GB)
  • Temple Street Children's University Hospital (IE)
  • St James's University Hospital (GB)
  • University Hospital Zurich (CH)
  • University of Zurich (CH)
  • Radboud University Medical Center (NL)
  • Université de Tours (FR)
  • HCU Network Baulkham Hills Australia
  • Service de Neurologie Pédiatrique et des Maladies Métaboliques Hôpital Robert Debré Paris France
  • Royal Belfast Hospital for Sick Children (GB)
  • Institute of Inherited Metabolic Disorders Charles University in Prague‐First Faculty of Medicine and General University Hospital in Prague Prague Czech Republic
  • Metabolism & Genetics Group Faculty of Pharmacy at University of Lisboa Lisboa Portugal
  • Sheffield Children's Hospital (GB)
  • University Medical Center Freiburg (DE)
  • Children's National (US)
Corresponding author
Morris, Andrew A. M.
ORCID
Venue
Journal of Inherited Metabolic Disease
Publisher
Wiley
Published
2016-10-24
Volume
40
Issue
1
Pages
49-74
ISSN
  • 0141-8955 (ISSN-L)
  • 1573-2665
DOI
10.1007/s10545-016-9979-0
PMC
PMC5203861
OpenAlex
W2537029225
Cited by
340
References
1
Citations by year
2026: 26 · 2025: 38 · 2024: 33 · 2023: 41 · 2022: 42 · 2021: 42 · 2020: 38 · 2019: 29 · 2018: 35 · 2017: 12 · 2016: 3 · 2015: 1
FWCI
4.18
Type
journal article
Language
en
Open access
Licence
Locations
  • Journal of Inherited Metabolic Disease (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • Zurich Open Repository and Archive (University of Zurich) (acceptedVersion, cc-by)
  • Radboud Repository (Radboud University) (submittedVersion)
  • Zurich Open Repository and Archive (University of Zurich) (submittedVersion, cc-by)
  • Radboud Repository (Radboud University) (submittedVersion, other-oa)
  • Zurich Open Repository and Archive (University of Zurich)
Funders
European Commission Health Program (2012_12_02)
Topics
  • Health Sciences › Medicine › Rheumatology › Folate and B Vitamins Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Biochemical and Molecular Research
Keywords
cystathionine beta-synthase deficiency, homocystinuria, methionine catabolism, homocysteine, pyridoxine responsiveness, low-methionine diet, thromboembolism, lens dislocation, skeletal abnormalities, diagnosis, management
MeSH terms
Betaine, Cystathionine beta-Synthase, Homocysteine, Homocystinuria, Humans, Methionine, Pyridoxine

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