Maternal vitamin B12 deficiency detected in expanded newborn screening

Scolamiero, Emanuela; Villani, Guido; Ingenito, Laura; Pecce, Rita; Albano, Lucia; Caterino, Marianna; Girolamo, Maria Grazia Di; Stefano, Cristina Di; Franzese, Ignazio; Gallo, Giovanna; Ruoppolo, Margherita

doi:10.1016/j.clinbiochem.2014.08.020

Cited by 55 publications

(86 citation statements)

References 22 publications

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“…Maternal vitamin B12 deficiency due to a strict vegan diet or to undiagnosed pernicious anaemia needs to be excluded in neonates and young infants presenting with signs of a remethylation disorder or identified by newborn screening (NBS) and subnormal vitamin B12 concentrations (Scolamiero et al 2014). …”

Section: Which Clinical Signs Are Characteristic For Remethylation Dementioning

confidence: 99%

Guidelines for diagnosis and management of the cobalamin‐related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

Huemer

Diodato

Schwahn

et al. 2016

J of Inher Metab Disea

242

368

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BackgroundRemethylation defects are rare inherited disorders in which impaired remethylation of homocysteine to methionine leads to accumulation of homocysteine and perturbation of numerous methylation reactions.ObjectiveTo summarise clinical and biochemical characteristics of these severe disorders and to provide guidelines on diagnosis and management.Data sourcesReview, evaluation and discussion of the medical literature (Medline, Cochrane databases) by a panel of experts on these rare diseases following the GRADE approach.Key recommendationsWe strongly recommend measuring plasma total homocysteine in any patient presenting with the combination of neurological and/or visual and/or haematological symptoms, subacute spinal cord degeneration, atypical haemolytic uraemic syndrome or unexplained vascular thrombosis. We strongly recommend to initiate treatment with parenteral hydroxocobalamin without delay in any suspected remethylation disorder; it significantly improves survival and incidence of severe complications. We strongly recommend betaine treatment in individuals with MTHFR deficiency; it improves the outcome and prevents disease when given early.Electronic supplementary materialThe online version of this article (doi:10.1007/s10545-016-9991-4) contains supplementary material, which is available to authorised users.

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Section: Which Clinical Signs Are Characteristic For Remethylation Dementioning

confidence: 99%

Guidelines for diagnosis and management of the cobalamin‐related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

Huemer

Diodato

Schwahn

et al. 2016

J of Inher Metab Disea

242

368

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“…In all three described cases, the mothers were asymptomatic but were found to have low B 12 levels and evidence of pernicious anemia on laboratory evaluation. Elevated MMA in blood and urine and, less commonly, total plasma homocysteine are sensitive, but nonspecific, markers of B 12 deficiency …”

Section: Discussionmentioning

confidence: 99%

“…estimated it to occur in 0.88/100,000 births [95% confidence interval (CI) 0.60–1.26) . A higher incidence of 1:5,000 was detected by a newborn‐screening pilot project in the Italian population …”

Section: Introductionmentioning

confidence: 99%

Vitamin B₁₂ Deficiency in Infancy: The Case for Screening

Singh

Schnabl

et al. 2016

Pediatric Blood & Cancer

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The classic principles put forth by Wilson and Jungner are often applied to determine the suitability of a condition for universal newborn screening. The three cases described here portray the harmful effects of vitamin B12 deficiency in infancy. The challenges and opportunities of early recognition and treatment are highlighted. Screening newborns would allow early detection and prevention of severe neurological damage in vitamin B12 -deficient infants and enable diagnosis of unrecognized maternal pernicious anemia in asymptomatic mothers. However, lack of standardized methodology and screening cutoffs present challenges to the use of current tandem mass spectrometry technologies for screening.

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“…The measurement of amino acids and acylcarnitines enables the identification of many IEMs just few days after birth [47,48]. If not diagnosed and early treated, most of them might cause mental and/or growth retardation, severe permanent sequelae and, in some cases, death (Fig.…”

Section: Metabolomic Strategies and Applications In Iemsmentioning

confidence: 99%

“…An international collaborative project (http://www.clir-r4s.org) identified 114 biomarkers, amino acids, amino acid ratios, acylcarnitines, and acylcarnitine ratios, to be used in the newborn screening by tandem MS [48,49]. The marker cut-off values were calculated by the above-quoted collaborative project using approximately 25-30 million normal newborns and 10,742 true positive cases.…”

Section: Metabolomic Strategies and Applications In Iemsmentioning

confidence: 99%

Integration of Proteomics and Metabolomics in Exploring Genetic and Rare Metabolic Diseases

et al. 2017

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Background: Inherited metabolic disorders or inborn errors of metabolism are caused by deficiency of enzymatic activities in the catabolism of amino acids, carbohydrates, or lipids. These disorders include aminoacidopathies, urea cycle defects, organic acidemias, defects of oxidation of fatty acids, and lysosomal storage diseases. Inborn errors of metabolism constitute a significant proportion of genetic diseases, particularly in children; however, they are individually rare. Clinical phenotypes are very variable, some of them remain asymptomatic, others manifest metabolic decompensation in neonatal age, and others encompass mental retardation at later age. The clinical manifestation of these disorders can involve different organs and/or systems. Some disorders are easily managed if promptly diagnosed and treated, whereas in other cases neither diet, vitamin therapy, nor transplantation appears to prevent multi-organ impairment. Summary: Here, we discuss the principal challenges of metabolomics and proteomics in inherited metabolic disorders. We review the recent developments in mass spectrometry-based proteomic and metabolomic strategies. Mass spectrometry has become the most widely used platform in proteomics and metabolomics because of its ability to analyze a wide range of molecules, its optimal dynamic range, and great sensitivity. The fast measurement of a broad spectrum of metabolites in various body fluids, also collected in small samples like dried blood spots, have been facilitated by the use of mass spectrometry-based techniques. These approaches have enabled the timely diagnosis of inherited metabolic disorders, thereby facilitating early therapeutic intervention. Due to its analytical features, proteomics is suited for the basic investigation of inborn errors of metabolism. Modern approaches enable detailed functional characterization of the pathogenic biochemical processes, as achieved by quantification of proteins and identification of their regulatory chemical modifications. Key Message: Mass spectrometry-based “omics” approaches most frequently used to study the molecular mechanisms underlying inherited metabolic disorders pathophysiology are described.

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Maternal vitamin B12 deficiency detected in expanded newborn screening

Cited by 55 publications

References 22 publications

Guidelines for diagnosis and management of the cobalamin‐related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

Guidelines for diagnosis and management of the cobalamin‐related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

Vitamin B₁₂ Deficiency in Infancy: The Case for Screening

Integration of Proteomics and Metabolomics in Exploring Genetic and Rare Metabolic Diseases

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Maternal vitamin B12 deficiency detected in expanded newborn screening

Cited by 55 publications

References 22 publications

Guidelines for diagnosis and management of the cobalamin‐related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

Guidelines for diagnosis and management of the cobalamin‐related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

Vitamin B12 Deficiency in Infancy: The Case for Screening

Integration of Proteomics and Metabolomics in Exploring Genetic and Rare Metabolic Diseases

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Product

Resources

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Vitamin B₁₂ Deficiency in Infancy: The Case for Screening