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Guidelines for the diagnosis and management of cystathionine beta‐synthase deficiency
Author(s) -
Morris Andrew A. M.,
Kožich Viktor,
Santra Saikat,
Andria Generoso,
BenOmran 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,
Almeida Isabel Tavares,
Terry Allyson,
Yap Sufin,
Blom Henk J.,
Chapman Kimberly A.
Publication year - 2017
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-016-9979-0
Subject(s) - homocystinuria , cystathionine beta synthase , homocysteine , pyridoxine , medicine , methionine , methionine synthase , pediatrics , endocrinology , biochemistry , biology , amino acid
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.