The Manchester regional screening programme: a 10-year exercise in patient and family care.

Komrower, G. M.; Sardharwalla, I. B.; Fowler, Brian; Bridge, Christine

doi:10.1136/bmj.2.6191.635

Cited by 15 publications

(6 citation statements)

References 3 publications

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“…It lowers Hcy concentrations in CBS deficiency by donating a methyl group and converting Hcy to Met (Komrower et al 1979; Smolin et al 1981; Wilcken et al 1983, 1985; Singh et al 2004). Betaine may also act as a chemical chaperone and correct partial mis-folding of CBS mutants (Bourot et al 2000; Diamant et al 2001, 2003; Kopecka et al 2011).…”

Section: Recommendationsmentioning

confidence: 99%

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

Morris

Kožich

Santra

et al. 2016

J of Inher Metab Disea

270

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%

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

Morris

Kožich

Santra

et al. 2016

J of Inher Metab Disea

270

360

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“…Our results indicate that instituting universal newborn screening for MCADD can be achieved at an incremental cost of $5600 per QALY saved, or $11 000 per life-year saved, over a 20-year horizon and is therefore a highly cost-effective intervention. [47][48][49][50][51][52][53][54][55][56][57][58][59][60][61][62] The case for screening is further strengthened when the incremental ratio over a 70-year horizon is considered, as the respective ratios are $100 and $300. Probabilistic sensitivity analysis yielded 95% CIs for the estimated incremental cost-effectiveness ratios, with upper limits that equaled $17 100/ QALY ($33 800/life-year) for the 20-year horizon and $6900/QALY ($13 000/life-year) for the 70-year ho- rizon.…”

Section: Model Predictionsmentioning

confidence: 99%

Newborn Screening by Tandem Mass Spectrometry for Medium-Chain Acyl-CoA Dehydrogenase Deficiency: A Cost-Effectiveness Analysis

Venditti

Berry

et al. 2003

Pediatrics

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“…Twelve published economic evaluation studies were identified (Table 25). 132,[157][158][159][160][161][162][163][164][165][166][167] Ten of these [157][158][159][160][161][162][163][164][165][166] were CBAs, with quantification of monetary costs and benefits. Two were simpler cost-effectiveness analyses (CEAs) 132,167 which calculated only the cost of screening per case detected.…”

Section: Number and Type Of Economic Evaluation Papers Identifiedmentioning

confidence: 99%

“…In all there were eight studies [157][158][159][160][161]163,164,166 in which the costs and benefits of neonatal screening for PKU were estimated (see Table 26). These covered very different populations and the number of cases detected varied considerably, from 1.2 to 17.9 per 100,000 babies screened.…”

Section: The Economics Of Pku Screeningmentioning

confidence: 99%

Newborn screening for inborn errors of metabolism: a systematic review.

Seymour¹,

Thomason²,

Chalmers³

et al. 1997

Health Technology Assessment

116

126

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Newborn screening for inborn errors of metabolism: a systematic review. Health Technol Assessment 1997; 1(11). NHS R&D HTA Programme T he overall aim of the NHS R&D Health Technology Assessment (HTA) programme is to ensure that high-quality research information on the costs, effectiveness and broader impact of health technologies is produced in the most efficient way for those who use, manage and work in the NHS. Research is undertaken in those areas where the evidence will lead to the greatest benefits to patients, either through improved patient outcomes or the most efficient use of NHS resources. The Standing Group on Health Technology advises on national priorities for health technology assessment. Six advisory panels assist the Standing Group in identifying and prioritising projects. These priorities are then considered by the HTA Commissioning Board supported by the National Coordinating Centre for HTA (NCCHTA). This report is one of a series covering acute care, diagnostics and imaging, methodology, pharmaceuticals, population screening, and primary and community care. It was identified as a priority by the Population Screening Panel (see inside back cover). The views expressed in this publication are those of the authors and not necessarily those of the Standing Group, the Commissioning Board, the Panel members or the Department of Health.

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The Manchester regional screening programme: a 10-year exercise in patient and family care.

Cited by 15 publications

References 3 publications

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

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

Newborn Screening by Tandem Mass Spectrometry for Medium-Chain Acyl-CoA Dehydrogenase Deficiency: A Cost-Effectiveness Analysis

Newborn screening for inborn errors of metabolism: a systematic review.

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