Dietary practices in pyridoxine non-responsive homocystinuria: A European survey

Adam, Sarah; Almeida, Manuela Ferreira de; Weber, E. Carbasius; Champion, H.; Chan, Hsiao‐Lung; Daly, Anne; Dixon, Marjorie; Dokoupil, Katharina; Egli, Delphine; Evans, Sharon; Eyskens, François; Faria, Ana; Ferguson, Christine S.; Hallam, Patricia; Heddrich-Ellerbrok, M.; Jacobs, James A.; Jankowski, C.M.; Lachmann, Robin; Lilje, R.; Link, R.; Lowry, S F; Luyten, Katrien; MacDonald, Anita; Maritz, C.; Martins, Esmeralda; Meyer, U.; Müller, Eugenio E.; Murphy, Elaine; Robertson, Louise; Rocha, Júlio César; Saruggia, I.; Schick, Paul K.; Stafford, J.; Stoelen, L.; Terry, A.; Thom, Ruth; Hurk, T. van den; Rijn, M. van; Teefelen-Heithoff, A. van; Webster, Diana; White, Fiona J.; Wildgoose, J.; Zweers, H.

doi:10.1016/j.ymgme.2013.10.003

Cited by 24 publications

(27 citation statements)

References 26 publications

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“…It should be considered for all pyridoxine unresponsive patients and as additional treatment in individuals who are partially pyridoxine responsive (Komrower et al 1966; Perry et al 1966, 1968; Mudd et al 1985; Pullon 1988; Walter et al 1998; Yap and Naughten 1998; Lutteri et al 1999; Kabra 2002; Keating et al 2011; Schiff and Blom 2012; Adam et al 2013; de Lonlay et al 2002). …”

Section: Recommendationsmentioning

confidence: 99%

“…Met restriction in individuals treated with betaine can also prevent excessively raised Met levels and the possible risks associated with these—see Side effects of betaine (statement #28: grade of recommendation C-D) (Pullon 1988; Garland et al 1999; Lawson-Yuen and Levy 2006). A recent European survey of pyridoxine unresponsive patients found that a combination of dietary restriction and betaine was the commonest treatment (Adam et al 2013). …”

Section: Recommendationsmentioning

confidence: 99%

“…The Met-restricted diet is calculated by estimating the daily Met intake, whereas the protein-restricted diet is based on the intake of natural protein and the assumption that 1 g of protein provides a specific quantity of Met. For practical reasons, a combination of the two is often used (Adam et al 2013). In theory, the Met-restricted diet is preferable because the Met content of different foods varies relative to their protein content.…”

Section: Recommendationsmentioning

confidence: 99%

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

Morris

Kožich

Santra

et al. 2016

J of Inher Metab Disea

262

360

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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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Section: Recommendationsmentioning

confidence: 99%

Section: Recommendationsmentioning

confidence: 99%

Section: Recommendationsmentioning

confidence: 99%

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

Morris

Kožich

Santra

et al. 2016

J of Inher Metab Disea

262

360

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“…Non-pyridoxine responsive HCU is more severe and is usually treated with a methionine restricted diet and cysteine enriched amino acid supplementation [10]. Children with HCU appear normal in early infancy, but the subsequent natural course of CBS deficiency is severe, with patients presenting with ectopia lentis and myopia, mental retardation, marfanoid habitus, osteoporosis, and thromboembolic events, as well as decreased IQ [1,11,12].…”

Section: Introductionmentioning

confidence: 99%

A Rapid Screening Method for the Measurement of Neonatal Total Homocysteine in Dried Blood Spots by Liquid Chromatography-Tandem Mass Spectrometry

Maase

Skrinska

Younes

et al. 2017

IJNS

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Homocystinuria (HCU) due to cystathionine-β-synthase deficiency is generally regarded as a rare disease, but within the Qatari population has an incidence of 1 in 1800 live births. Most newborn screening methods for HCU using dried blood spots (DBS) rely on the detection of an elevated methionine level or a rapid screen for total homocysteine (tHCY). However, screening based on methionine levels alone lacks specificity and rapid liquid chromatography tandem mass spectrometry (LC-MS/MS) methods for tHCY exhibit variable results with high false positive rates. This report describes a LC-MS/MS method for detection of tHCY on DBS, with improved specificity. tHCY was extracted from DBS with a solution containing dithiothreitol and subsequently butylated with hydrochloric acid in n-butanol. The butyl esters were separated by liquid chromatography on a reverse-phase column and the homocysteine (HCY), detected by tandem mass spectrometry. The butyl ester of HCY eluted at 1.8 min. Total analysis time was 6.1 min per sample, including column flush and equilibration. This method allows for the quantification of tHCY over a linear range from 0.3 to 200 µM. Intraassay and interassay imprecision and recoveries were acceptable. Good concordance was observed with another LC-MS/MS method. Application of this method improves specificity and reduces false positive rates in screening for HCU.

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“…Therapeutic reduction of homocysteine levels via methionine or protein restricted diet, betaine administration, or pyridoxine administration can improve clinical outcomes. [2, 3]…”

Section: Introductionmentioning

confidence: 99%

Low bone mineral density is a common finding in patients with homocystinuria

Weber

Coughlin

Brodsky

et al. 2016

Molecular Genetics and Metabolism

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Homocystinuria (HCU) due to deficiency of cystathionine beta-synthetase is associated with increased plasma levels of homocysteine and methionine and is characterized by developmental delay, intellectual impairment, ocular defects, thromboembolism and skeletal abnormities. HCU has been associated with increased risk for osteoporosis in some studies, but the natural history of HCU-related bone disease is poorly understood. The objective of this study was to characterize bone mineral density (BMD) measured by dual energy X-ray absorptiometry (DXA) in a multi-center, retrospective cohort of children and adults with HCU. We identified 19 subjects (9 males) aged 3.5 to 49.2 years who had DXA scans performed as a part of routine clinical care from 2002–2010. The mean lumbar spine (LS) BMD Z-score at the time of first DXA scan in this cohort was −1.2 (± SD of 1.3); 38% of participants had low BMD for age (as defined by a Z-score ≤ −2). Homocysteine and methionine were positively associated with LS BMD Z-score in multiple linear regression models. Our findings suggest that low BMD is common in both children and adults with HCU and that routine assessment of bone health in this patient population is warranted. Future studies are needed to clarify the relationship between HCU and BMD.

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Dietary practices in pyridoxine non-responsive homocystinuria: A European survey

Cited by 24 publications

References 26 publications

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

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

A Rapid Screening Method for the Measurement of Neonatal Total Homocysteine in Dried Blood Spots by Liquid Chromatography-Tandem Mass Spectrometry

Low bone mineral density is a common finding in patients with homocystinuria

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