Galactose-1-phosphate uridyltransferase dried blood spot quality control materials for newborn screening tests

Adam, Barbara W.; Flores, Sharon R.; Hou, Yu Yi; Allen, Todd W.; Jesús, Víctor R. De

doi:10.1016/j.clinbiochem.2014.12.009

Cited by 10 publications

(4 citation statements)

References 10 publications

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“…Galactose-1-P more than 10 mg/%, is suggestive of galactosemia. Galactose tolerance tests were abandoned as they are ethically unacceptable, given that they induce complications in neonates with galactosemia 69…”

Section: Challenges Facing Newborn Screening For Galactosemiamentioning

confidence: 99%

<p>Screening for galactosemia: is there a place for it?</p>

Kotb¹,

Mansour²,

Shamma³

2019

IJGM

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Galactose is a hexose essential for production of energy, which has a prebiotic role and is essential for galactosylation of endogenous and exogenous proteins, ceramides, myelin sheath metabolism and others. The inability to metabolize galactose results in galactosemia. Galactosemia is an autosomal recessive disorder that affects newborns who are born asymptomatic, apparently well and healthy, then develop serious morbidity and mortality upon consuming milk that contains galactose. Those with galactosemia have a deficiency of an enzyme: classic galactosemia (type 1) results from severe deficiency of galactose-1-uridylyltransferase, while galactosemia type II results from galactokinase deficiency and type III results from galactose epimerase deficiency. Many countries include neonatal screening for galactosemia in their national newborn screening program; however, others do not, as the condition is rather rare, with an incidence of 1:30,000–1:100,000, and screening may be seen as not cost-effective and logistically demanding. Early detection and intervention by restricting galactose is not curative but is very rewarding, as it prevents deaths, mental retardation, liver cell failure, renal tubular acidosis and neurological sequelae, and may lead to resolution of cataract formation. Hence, national newborn screening for galactosemia prevents serious potential life-long suffering, morbidity and mortality. Recent advances in communication and biotechnology promise facilitation of logistics of neonatal screening, including improved cost-effectiveness.

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Section: Challenges Facing Newborn Screening For Galactosemiamentioning

confidence: 99%

<p>Screening for galactosemia: is there a place for it?</p>

Kotb¹,

Mansour²,

Shamma³

2019

IJGM

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“…Whereas easy detection of galactosemia, another error of carbohydrate metabolism, can be performed by means of metabolic analysis using dried blood spot (DBS) testing [12], no simple metabolic test is available for the rapid identification of HFI. The diagnosis of HFI used to be based on the clinical features of fructose intolerance, liver biopsy to assess aldolase B activity, and/or a fructose challenge test [13].…”

Section: Introductionmentioning

confidence: 99%

Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance

Cano

Alcalde

Bélanger-Quintana

et al. 2021

JCM

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Hereditary Fructose Intolerance (HFI) is an autosomal recessive inborn error of metabolism characterised by the deficiency of the hepatic enzyme aldolase B. Its treatment consists in adopting a fructose-, sucrose-, and sorbitol (FSS)-restrictive diet for life. Untreated HFI patients present an abnormal transferrin (Tf) glycosylation pattern due to the inhibition of mannose-6-phosphate isomerase by fructose-1-phosphate. Hence, elevated serum carbohydrate-deficient Tf (CDT) may allow the prompt detection of HFI. The CDT values improve when an FSS-restrictive diet is followed; however, previous data on CDT and fructose intake correlation are inconsistent. Therefore, we examined the complete serum sialoTf profile and correlated it with FSS dietary intake and with hepatic parameters in a cohort of paediatric and adult fructosemic patients. To do so, the profiles of serum sialoTf from genetically diagnosed HFI patients on an FSS-restricted diet (n = 37) and their age-, sex- and body mass index-paired controls (n = 32) were analysed by capillary zone electrophoresis. We found that in HFI patients, asialoTf correlated with dietary intake of sucrose (R = 0.575, p < 0.001) and FSS (R = 0.475, p = 0.008), and that pentasialoTf+hexasialoTf negatively correlated with dietary intake of fructose (R = −0.386, p = 0.024) and FSS (R = −0.400, p = 0.019). In addition, the tetrasialoTf/disialoTf ratio truthfully differentiated treated HFI patients from healthy controls, with an area under the ROC curve (AUROC) of 0.97, 92% sensitivity, 94% specificity and 93% accuracy.

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“…Newborn screening laboratories should continue to explore ways to stay open with fewer stretches of time being closed, or possibly receiving specimens 6–7 days per week and keeping them in refrigerated temporary storage until testing can begin. This recommendation may have benefits beyond CF to maintain levels of other analytes with degradation issues used for screening disorders, like galactosemia [ 19 , 20 ]. Initiatives to lessen transport time from hospitals to screening labs in the years after data collection for this study may have at least partially addressed this factor ( , accessed on 20 August 2022).…”

Section: Discussionmentioning

confidence: 99%

Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors

Kharrazi

Sacramento

Comeau

et al. 2022

IJNS

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Testing immunoreactive trypsinogen (IRT) is the first step in cystic fibrosis (CF) newborn screening. While high IRT is associated with CF, some cases are missed. This survey aimed to find factors associated with missed CF cases due to IRT levels below program cutoffs. Twenty-nine states responded to a U.S-wide survey and 13 supplied program-related data for low IRT false screen negative cases (CFFN) and CF true screen positive cases (CFTP) for analysis. Rates of missed CF cases and odds ratios were derived for each factor in CFFNs, and two CFFN subgroups, IRT above (“high”) and below (“low”) the CFFN median (39 ng/mL) compared to CFTPs for this entire sample set. Factors associated with “high” CFFN subgroup were Black race, higher IRT cutoff, fixed IRT cutoff, genotypes without two known CF-causing variants, and meconium ileus. Factors associated with “low” CFFN subgroup were older age at specimen collection, Saturday birth, hotter season of newborn dried blood spot collection, maximum ≥ 3 days laboratories could be closed, preterm birth, and formula feeding newborns. Lowering IRT cutoffs may reduce “high” IRT CFFNs. Addressing hospital and laboratory factors (like training staff in collection of blood spots, using insulated containers during transport and reducing consecutive days screening laboratories are closed) may reduce “low” IRT CFFNs.

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Galactose-1-phosphate uridyltransferase dried blood spot quality control materials for newborn screening tests

Cited by 10 publications

References 10 publications

<p>Screening for galactosemia: is there a place for it?</p>

<p>Screening for galactosemia: is there a place for it?</p>

Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance

Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors

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