Erratum to: Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking Ahead

Pyhtila, Brook; Shaw, Kelly A.; Neumann, Samantha E.; Fridovich‐Keil, Judith L.

doi:10.1007/8904_2014_369

Cited by 12 publications

(18 citation statements)

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“…Mass neonatal screening including galactosemia is performed in the United States ( 8 ), and some European countries ( 9 ), but many countries such as Iran have minor neonatal screening tests, among which galactosemia is not yet included ( 10 ).…”

Section: Discussionmentioning

confidence: 99%

A Case of Classic Galactosemia Manifesting as Neonatal Early and Profound Indirect hyperbilirubinemia

2019

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Galactosemia is a rare autosomal recessive metabolic disorder that has three major types. The most common type is classic galactosemia. These patients have deficient galactose-1-phosphate-urydiltransferase. The enzyme deficiency often results in symptomatic disease if breastfeeding or lactose-containing formulas continue. Neonatal jaundice is among the most prevalent symptoms. Although patients with classic galactosemia mostly demonstrate direct neonatal hyperbilirubinemia (cholestasis), seldom they may initially have indirect hyperbilirubinemia. Herein, we present a newborn with initial neonatal profound indirect hyperbilirubinemia who responded well to intensive phototherapy, then presented with cholestasis and was finally diagnosed as having classic galactosemia. Unfortunately, major textbooks of neonatology and pediatrics are still missing galactosemia as one of the differential diagnoses of neonatal indirect hyperbilirubinemia. It is just mentioned as prolonged or direct neonatal hyperbilirubinemia. We recommend that galactosemia be included in the differential diagnosis of neonatal early indirect hyperbilirubinemia because neonatal screening results may be delayed or missed completely.

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Section: Discussionmentioning

confidence: 99%

A Case of Classic Galactosemia Manifesting as Neonatal Early and Profound Indirect hyperbilirubinemia

2019

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“…We observed several recurrent carrier findings; the most common were variants in the genes HFE ). Five participants were carriers for variants in GALT that are associated with the Duarte 2 allele [87][88][89] (including one missense variant and three intronic variants), while two participants were carriers for a variant associated with classic galactosemia 90,91 (MIM: 230400), c.563A>G (p.Gln188Arg). Five participants carried a hypomorphic variant located in the 5 0 untranslated region (UTR) in RBM8A (c.À21G>A [p.?…”

Section: Additional Genomic Findingsmentioning

confidence: 99%

Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project

Roman

Crowley

Roche

et al. 2020

The American Journal of Human Genetics

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Newborn screening (NBS) was established as a public health program in the 1960s and is crucial for facilitating detection of certain medical conditions in which early intervention can prevent serious, life-threatening health problems. Genomic sequencing can potentially expand the screening for rare hereditary disorders, but many questions surround its possible use for this purpose. We examined the use of exome sequencing (ES) for NBS in the North Carolina Newborn Exome Sequencing for Universal Screening (NC NEXUS) project, comparing the yield from ES used in a screening versus a diagnostic context. We enrolled healthy newborns and children with metabolic diseases or hearing loss (106 participants total). ES confirmed the participant's underlying diagnosis in 15 out of 17 (88%) children with metabolic disorders and in 5 out of 28 ($18%) children with hearing loss. We discovered actionable findings in four participants that would not have been detected by standard NBS. A subset of parents was eligible to receive additional information for their child about childhood-onset conditions with low or no clinical actionability, clinically actionable adult-onset conditions, and carrier status for autosomal-recessive conditions. We found pathogenic variants associated with hereditary breast and/or ovarian cancer in two children, a likely pathogenic variant in the gene associated with Lowe syndrome in one child, and an average of 1.8 reportable variants per child for carrier results. These results highlight the benefits and limitations of using genomic sequencing for NBS and the challenges of using such technology in future precision medicine approaches.

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“…3,6,7,11,12 Moreover, the NBS assay identifies a very common Duarte galactosemia variant of little clinical importance. 2,6,8 NBS for galactosemia has not been part of the Israeli NBS panel due to several additional issues: (1) lack of information regarding the incidence in Israel, and specifically the prevalence in the non-Ashkenazi Jewish and non-Jewish subpopulations. (2) expected high rate of falsepositives 13,14 since GALT enzyme is sensitive to heat and humidity and specimens are transported by cars in the warm and humid Israeli climate.…”

Section: Introductionmentioning

confidence: 99%

“…Additionally, from the NBS laboratory perspective, the test is associated with a high false‐positive rate and low positive predictive value (PPV), even though two separate NBS assays are commonly conducted 3,6,7,11,12 . Moreover, the NBS assay identifies a very common Duarte galactosemia variant of little clinical importance 2,6,8 …”

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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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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Erratum to: Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking Ahead

Cited by 12 publications

References 0 publications

A Case of Classic Galactosemia Manifesting as Neonatal Early and Profound Indirect hyperbilirubinemia

A Case of Classic Galactosemia Manifesting as Neonatal Early and Profound Indirect hyperbilirubinemia

Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project

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

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