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

J Inherit Metab Dis 2017 01 24;40(1):49-74. Epub 2016 Oct 24.

Division of Genetic and Metabolism, Children's National Health System, Washington, DC, USA.

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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http://dx.doi.org/10.1007/s10545-016-9979-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5203861PMC
January 2017
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References

(Supplied by CrossRef)

MH Abbott et al.
Am J Med Genet 1987

S Adam et al.
Mol Genet Metab 2013

P Alcaide et al.
Clin Chim Acta 2015

AN Alodaib et al.
JIMD Rep 2012

M Anderson et al.
Orphanet J Rare Dis 2013

L Arbour et al.
J Pediatr 1988

A Asghar et al.
J Coll Physicians Surg Pak 2012

Y Awaad et al.
J Child Neurol 1995

J Bartl et al.
Clin Chim Acta 2014

RK Beals et al.
J Bone Joint Surg Am 1969

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