Cost-benefit analysis: Newborn screening for inborn errors of metabolism in Lebanon

Khneisser, Issam; Adib, Salim M.; Assaad, Shafika; Mégarbané, André; Karam, Pascale E.

doi:10.1177/0969141315590675

Cited by 27 publications

(29 citation statements)

References 13 publications

(15 reference statements)

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“…Although the results of our study, which were generated in a time span of two years, do not reflect the true prevalence of IEMs in Bangladesh, it clearly demonstrates that IEMs are not uncommon in this country and thus the authorities in health sector and policymakers should be notified of the importance of screening of IEMs. In addition, consanguineous marriage, which is a common practice in Muslim countries like Bangladesh, is a major factor behind high rates of IEMs [42, 43]. We found that about 43% of our confirmed IEM cases came with consanguineous family history and the findings are consistent with others reports published across the globe.…”

Section: Discussionsupporting

confidence: 90%

Age-Specific Cut-off Values of Amino Acids and Acylcarnitines for Diagnosis of Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry

Sarker

Islam

Biswas

et al. 2019

BioMed Research International

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Liquid Chromatography tandem mass spectrometry (LC-MS/MS) is used for the diagnosis of more than 30 inborn errors of metabolisms (IEMs). Accurate and reliable diagnosis of IEMs by quantifying amino acids (AAs) and acylcarnitines (ACs) using LC-MS/MS systems depend on the establishment of age-specific cut-offs of the analytes. This study aimed to (1) determine the age-specific cut-off values of AAs and ACs in Bangladesh and (2) validate the LC-MS/MS method for diagnosis of the patients with IEMs. A total of 570 enrolled healthy participants were divided into 3 age groups, namely, (1) newborns (1-7 days), (2) 8 days–7 years, and (3) 8–17 years, to establish the age-specific cut-offs for AAs and ACs. Also, 273 suspected patients with IEMs were enrolled to evaluate the reliability of the established cut-off values. Quantitation of AAs and ACs was performed on an automated LC-MS/MS system using dried blood spot (DBS) cards. Then the specimens of the enrolled clinically suspected patients were analyzed by the established method. Nine patients came out as screening positive for different IEMs, including two borderline positive cases of medium-chain acyl-CoA dehydrogenase deficiency (MCAD). A second-tier test for confirmation of the screening positive cases was conducted by urinary metabolic profiling using gas chromatography- mass spectrometry (GC-MS). Out of 9 cases that came out as screening positive by LC-MS/MS, seven cases were confirmed by urinary GC-MS analysis including 3 cases with phenylketonuria, 1 with citrullinemia type II, 1 with methylmalonic acidemia, 1 with isovaleric acidemia and 1 with carnitine uptake defect. Two borderline positive cases with MCAD were found negative by urinary GC-MS analysis. In conclusion, along with establishment of a validated LC-MS/MS method for quantitation of AAs and ACs from the DBS cards, the study also demonstrates the presence of predominantly available IEMs in Bangladesh.

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Section: Discussionsupporting

confidence: 90%

Age-Specific Cut-off Values of Amino Acids and Acylcarnitines for Diagnosis of Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry

Sarker

Islam

Biswas

et al. 2019

BioMed Research International

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“…Traditionally, the study and diagnosis of IEMs is performed using a panel of targeted analyses with dedicated analytical protocols. These protocols cover a selected panel of diseases by quantifying the metabolites in a disease pathway and metabolite levels are then compared to the range of healthy (normal) metabolic concentrations [66,119,120]. For some diseases, metabolite measurements are assembled into panels [121,122].…”

Section: Targeted Metabolomics In the Screening And Diagnosis Of mentioning

confidence: 99%

“…For the US state of Texas, it was reported that expanded newborn screening increases the costs to the payer [135]. Newborn screening programs are still not used in all countries worldwide, especially in developing countries [120]. The American College of Medical Genetics have recommended a uniform panel of conditions formed of 29 diseases together with 25 related diseases, including outcomes and guidelines [136].…”

Section: Targeted Metabolomics In the Screening And Diagnosis Of mentioning

confidence: 99%

Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics

2019

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Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways by genetic mutations, either directly or indirectly by cofactor deficiencies, causing altered levels of compounds associated with these pathways. While IEMs may present with multiple overlapping symptoms and metabolites, early and accurate diagnosis of IEMs is critical for the long-term health of affected subjects. The prevalence of IEMs differs between countries, likely because different IEM classifications and IEM screening methods are used. Currently, newborn screening programs exclusively use targeted metabolic assays that focus on limited panels of compounds for selected IEM diseases. Such targeted approaches face the problem of false negative and false positive diagnoses that could be overcome if metabolic screening adopted analyses of a broader range of analytes. Hence, we here review the prospects of using untargeted metabolomics for IEM screening. Untargeted metabolomics and lipidomics do not rely on predefined target lists and can detect as many metabolites as possible in a sample, allowing to screen for many metabolic pathways simultaneously. Examples are given for nontargeted analyses of IEMs, and prospects and limitations of different metabolomics methods are discussed. We conclude that dedicated studies are needed to compare accuracy and robustness of targeted and untargeted methods with respect to widening the scope of IEM diagnostics.

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“…11 Due to the autosomal recessive nature of most metabolic disorders and the tradition of consanguineous marriage in the Arab region, higher prevalence rates of these disorders have been reported in Saudi Arabia and Lebanon. 12,13 In response to the large number of children with manifestations suggestive of hereditary metabolic disorders referred to inpatient and outpatient sectors at Cairo University Children's Hospital (CUCH), we conducted the first NBS pilot study for disorders detectable by MS/MS in Egypt. We calculated the needed sample size to detect the approximate total prevalence of these disorders in the Egyptian newborn population, and attempted to evaluate the relative frequency of individual disorders, based on the outcomes of the NBS pilot study and the CUCH selective screening programme established in 2008.…”

Section: Introductionmentioning

confidence: 99%

Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study

et al. 2016

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Cost-benefit analysis: Newborn screening for inborn errors of metabolism in Lebanon

Cited by 27 publications

References 13 publications

Age-Specific Cut-off Values of Amino Acids and Acylcarnitines for Diagnosis of Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry

Age-Specific Cut-off Values of Amino Acids and Acylcarnitines for Diagnosis of Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry

Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics

Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study

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