Newborn screening for remethylation disorders and vitamin B12 deficiency-evaluation of new strategies in cohorts from Qatar and Germany

Gramer, Gwendolyn; Abdoh, Ghassan; Ben‐Omran, Tawfeg; Shahbeck, Noora; Ali, Rehab; Mahmoud, Laila; Fang-Hoffmann, Junmin; Hoffmann, Georg F.; Rifai, Hilal Al; Okun, Jürgen G.

doi:10.1007/s12519-017-0003-z

Cited by 27 publications

(46 citation statements)

References 17 publications

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“…Gramer et al have proposed an algorithm to detect CBSD and RMD with tHcy as a second‐tier test in all newborns with abnormalities in either Met (lower cut‐off only) or Met/Phe (lower and upper cut‐offs) or elevated C3 or C3/C2. This approach was tested in a single centre and did not only identify patients from the local population but also patients documented in the Region 4 Collaborative Project . The authors show that second‐tier measurement of tHcy allows adjusting the decision limits of the primary markers towards the median, which results in a smaller proportion of undetected patients.…”

Section: Discussionmentioning

confidence: 99%

Newborn screening for homocystinurias: Recent recommendations versus current practice

Keller

Chrastina

Pavlı́ková

et al. 2019

J of Inher Metab Disea

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Purpose: To assess how the current practice of newborn screening (NBS) for homocystinurias compares with published recommendations. Methods: Twenty-two of 32 NBS programmes from 18 countries screened for at least one form of homocystinuria. Centres provided pseudonymised NBS data from patients with cystathionine beta-synthase deficiency (CBSD, n = 19), methionine adenosyltransferase I/III deficiency (MATI/IIID, n = 28), combined remethylation disorder (cRMD, n = 56) and isolated remethylation disorder (iRMD), including methylenetetrahydrofolate reductase deficiency (MTHFRD) (n = 8). Markers and decision limits were converted to multiples of the median (MoM) to allow comparison between centres.

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Section: Discussionmentioning

confidence: 99%

Newborn screening for homocystinurias: Recent recommendations versus current practice

Keller

Chrastina

Pavlı́ková

et al. 2019

J of Inher Metab Disea

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“…Therefore, there is some evidence that the C3 to C2 ratio and/or C3 to C16 ratio together with C3 are better than C3 level alone for detecting or identifying the babies with nutritional B12 deficiency [7] , [8] , [17] . Some authors have also suggested to measure tHcy from first DBS and if it is elevated, then evaluate the second-tier markers like methionine (Met), Met to phenylalanine ratio, C3 and C3/C2, which is considered to be valuable method to detect remethylation disorders and vitamin B12 deficiency [18] . The MMA, measured from DBS as a secondary test, might also add value to increase sensitivity and specificity in detection of vitamin B12 deficiency [8] .…”

Section: Discussionmentioning

confidence: 99%

High incidence of low vitamin B12 levels in Estonian newborns

Reinson

Künnapas

Kriisa

et al. 2018

Molecular Genetics and Metabolism Reports

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Vitamin B12 deficiency seems to be more common worldwide than previously thought. However, only a few reports based on data from newborn screening (NBS) programs have drawn attention to that subject. In Estonia, over the past three years, we have diagnosed 14 newborns with congenital acquired vitamin B12 deficiency. Therefore, the incidence of that condition is 33.8/100,000 live births, which is considerably more than previously believed. None of the newborns had any clinical symptoms associated with vitamin B12 deficiency before the treatment, and all biochemical markers normalized after treatment, which strongly supports the presence of treatable congenital deficiency of vitamin B12. During the screening period, we began using actively ratios of some metabolites like propionylcarnitine (C3) to acetylcarnitine (C2) and C3 to palmitoylcarnitine (C16) to improve the identification of newborns with acquired vitamin B12 deficiency.In the light of the results obtained, we will continue to screen the congenital acquired vitamin B12 deficiency among our NBS program. Every child with aberrant C3, C3/C2 and C3/C16 will be thoroughly examined to exclude acquired vitamin B12 deficiency, which can easily be corrected in most cases.

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“…On the other hand, not all Cobalamin C and D deficiency can be identified by newborn screening using approaches based solely on elevated C3 [ 22 ]. Depending on the quality of data describing the confirmatory work-up, “MMA” cases without definite report of the final diagnosis might also include some cases with severe maternal vitamin B 12 deficiency, which can sometimes also be picked up by elevated C3 on newborn screening [ 23 , 24 ].…”

Section: Discussionmentioning

confidence: 99%

Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data

Gramer

Viall

Summar

2018

Molecular Genetics and Metabolism Reports

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Incidence for the branched-chain intoxication-type disorders, maple syrup urine disease, propionic acidemia and methlymalonic aciduria is dependent on the population screened. Here newborn screening results from three world regions, state screening laboratories in the United States, a region in Germany and Kuwait provides new incidence numbers. Maple syrup urine disease incidence in the United States was calculated to be 1: 220219, in South-West Germany 1: 119573 (Germany nationwide 1:177978), and in Kuwait 1: 59426. Incidence of propionic acidemia alone is calculated to be 1: 242741 in the United States, 1: 284450 in South-West Germany (Germany nationwide 1:202617) and 1:59426 in Kuwait. Incidence of isolated methylmalonic aciduria alone is 1:69354 in the United States, 1:568901 in South-West Germany (Germany nationwide 1:159199) and 1: 19809 in Kuwait. In the United States several newborn screening laboratories combine their results for propionic acidemia and methylmalonic aciduria, and also include combined remethylation disorders in the respective category, resulting in an incidence of 1:50709. Combined evaluation of methylmalonic aciduria, propionic aciduria and combined remethylation disorders results in a similar incidence for Germany of 1:67539. This evaluation of newborn screening incidences reflects some population differences for three intoxication-type metabolic disorders. However, different sample sizes of the populations screened over different time periods, and differences in case definitions for methylmalonic acidurias have to be considered when interpreting these data.

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Newborn screening for remethylation disorders and vitamin B12 deficiency-evaluation of new strategies in cohorts from Qatar and Germany

Cited by 27 publications

References 17 publications

Newborn screening for homocystinurias: Recent recommendations versus current practice

Newborn screening for homocystinurias: Recent recommendations versus current practice

High incidence of low vitamin B12 levels in Estonian newborns

Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data

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