Screening for Galactosemia Among Mentally Retarded Patients*

Beutler, Ernest; Day, Robert C.; Baluda, Maryellen C.; Polk, Kitiy

doi:10.1111/j.1365-2788.1965.tb00821.x

Cited by 4 publications

(3 citation statements)

References 6 publications

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“…NBS for classical galactosemia was the second candidate for universal screening shortly after the PKU innovation in the 1960s 1,2,4–6,8 . While NBS for PKU became universal and the screening method and accuracy have improved, the screening for galactosemia stagnated.…”

Section: Discussionmentioning

confidence: 99%

“…Newborn screening (NBS) has the potential to identify galactosemia patients before they become critically ill. The dried blood spot (DBS) assay for identifying galactose‐1‐phosphate uridyltransferase (GALT) enzyme (EC 2.7.7.12) deficiency (OMIM #230400) became available in the 1960s, shortly after establishing the phenylketonuria (PKU, OMIM#261600) NBS assay 1 . Although NBS for PKU became almost universal, NBS for classical galactosemia has been inconsistently used worldwide, since European NBS programs defined it as a low priority 2–6 .…”

Section: Introductionmentioning

confidence: 99%

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Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia

Daas

Salah

Anikster

et al. 2022

J of Inher Metab Disea

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Galactosemia is an inborn disorder of carbohydrate metabolism of which early detection can prevent severe illness. Although the assay for galactose‐1‐phosphate uridyltransferase (GALT) enzyme activity has been available since the 1960s, many issues prevented it from becoming universal. In order to develop the Israeli newborn screening pilot algorithm for galactosemia, flow injection analysis tandem mass spectrometry measurement of galactose‐1‐phosphate in archived dried blood spots from newborns with classical galactosemia, galactosemia variants, epimerase deficiency, and normal controls, was conducted. Out of 431 330 newborns screened during the pilot study (30 months), two with classical galactosemia and four with epimerase deficiency were identified and confirmed. Five false positives and no false negatives were recorded. Following this pilot study, the Israeli final and routine newborn screening algorithm, as recommended by the Advisory Committee to the National Newborn Screening Program, now consists of galactose‐1‐phosphate measurement integrated into the routine tandem mass spectrometry panel as the first‐tier screening test, and GALT enzyme activity as the second‐tier performed to identify only newborns suspected to be at risk for classical galactosemia. The GALT enzyme activity cut‐off used in the final algorithm was lowered in order to avoid false positives.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia

Daas

Salah

Anikster

et al. 2022

J of Inher Metab Disea

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“…In 1957, NADH's first fluorescence spectrophotometric detection was published [8]. Beutler devised an endogenous fluorescence-based approach in 1964, recognizing that NAD(P)H might be used as an endpoint signal in galactose screening protocols [9][10][11][12]. This technical advancement paved the way for using NAD(P)H to reduce/oxidize dyes to monitor enzyme(s) activity, resulting in colorimetric, spectrophotometric and fluorescence assays [13][14][15].…”

Section: Introductionmentioning

confidence: 99%

Feasibility of NAD(P)/NAD(P)H as redox agents in enzymatic plasmonic gold nanostar assays for galactose quantification

Munyayi,

Mulder,

Conradie

et al. 2023

R. Soc. open sci.

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Plasmonic colorimetric sensors have emerged as powerful analytical tools in biochemistry due to their localized surface plasmon resonance extinction in the visible range. Here, we describe the feasibility of NAD(P)/NAD(P)H as redox agents in enzymatic plasmonic gold nanostar (AuNS) assays for galactose quantification using three model enzymes, GalDH, AR and GalOx, immobilized separately on polyvinylpyrrolidone-capped AuNS scaffolds. These highly specific, sensitive and selective bioassays induce the transformation of AuNS into quasi-spherical nanoparticles during the biorecognition of galactose in water and synthetic blood matrices. As a result, using our inexpensive and simple AuNS plasmon bioassays, the presence of galactose may be detected spectrophotometrically and by the naked eye.

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