Publications by authors named "Erica L Wright"

3 Publications

  • Page 1 of 1

Neonatal Macrosomia is an Interfering Factor for Analytes on the Colorado State Newborn Screen.

J Clin Endocrinol Metab 2020 03;105(3)

Children's Hospital Colorado, University of Colorado Denver, Aurora, Colorado.

Purpose: Neonatal macrosomia is a known complication of maternal obesity and gestational diabetes, and it is a risk factor for obesity and diabetes in offspring. Amino acids and acylcarnitines are biomarkers for obesity in children and adults. These analytes, which are also routinely obtained on the newborn screen, have not been well-characterized in macrosomic newborns. The impact of macrosomia on rates of false-positive results in the newborn screen has also not been well-studied. We test the hypothesis that macrosomia is an interfering factor for amino acids and/or acylcarnitines on the newborn screen.

Methods: Newborn screening analytes determined by tandem mass spectroscopy were obtained from the Colorado Department of Public Health and Environment archives (2016-2018). This included metabolite concentrations obtained at 24-72 hours of life from newborns with birth weight 2500 to 3999 g (nonmacrosomic, n = 131 896) versus 4000 to 8000 g (macrosomic, n = 7806). Mother/infant phenotypic data were limited to information provided on the newborn screening dried blood spot card. Data were analyzed using Student t-test and chi-squared analysis.

Results: Macrosomic newborns had elevations in C2, C3, dicarboxylic, and long-chain acylcarnitines (specifically C16 and C18 species). C3 and C18:1 were 2 to 3 times more likely to be above predetermined state cutoffs in macrosomic versus nonmacrosomic newborns (both male and female).

Main Conclusions: Macrosomia is an interfering factor for the analytes C3 and C18:1, leading to higher risk of false-positive results for methylmalonic/propionic acidemia and carnitine palmitoyl transferase type 2 deficiency, respectively. Analyte patterns found in macrosomic neonates correspond with similar analyte patterns in obese children and adults.
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http://dx.doi.org/10.1210/clinem/dgz183DOI Listing
March 2020

Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening.

Mol Genet Metab 2012 Aug 20;106(4):439-41. Epub 2012 Apr 20.

Department of Pediatrics, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.

Introduction: 3-Methyl CoA carboxylase (3-MCC) deficiency is an inborn error of metabolism in the catabolism of the amino acid leucine. Original reports suggested this disorder was associated with significant neurological and biochemical effects. However newborn screening has identified a higher than expected incidence of this disorder with apparent normal outcome in most cases.

Method: A retrospective analysis of thirty-five cases of 3-MCC deficiency identified by newborn screening and diagnosed by enzyme or molecular analysis.

Results: There was a strong inverse correlation between initial C5OH level and residual enzyme activity. A few reports of hypoglycemia, ketosis, poor feeding/failure to thrive or fasting intolerance were reported, but there was no clear relationship between symptoms and residual enzyme activity. Developmental outcome included several children with mental retardation (including one with Down syndrome and one with schizencephaly) and two with Autism Spectrum disorders but there was no apparent relationship to residual enzyme activity. Free carnitine deficiency was relatively common.

Discussion: Although residual enzyme activity was clearly related to metabolite elevation, there was no apparent relationship with other measures of outcome. The number of reports of neurologic abnormalities or metabolic symptoms (poor feeding, hypoglycemia, fasting intolerance, etc.) is concerning, but the significance is unclear in this retrospective sample.
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http://dx.doi.org/10.1016/j.ymgme.2012.04.006DOI Listing
August 2012

Mountain States Genetics Regional Collaborative Center's Metabolic Newborn Screening Long-term Follow-up Study: a collaborative multi-site approach to newborn screening outcomes research.

Genet Med 2010 Dec;12(12 Suppl):S228-41

Department of Pediatrics, University of Colorado Denver, Aurora, Colorado 80045, USA.

Purpose: This article presents the rationale and design of the Mountain States Genetics Regional Collaborative Center's Metabolic Newborn Screening Long-Term Follow-up Study.

Methods: This study is a collaboration of multi-site metabolic providers throughout the Mountain States region investigating the long-term outcomes of individuals with metabolic conditions detected by newborn screening.

Results: The Mountain States Genetics Regional Collaborative Center's Metabolic Consortium developed disease-specific care plans that included baseline and follow-up datasets for all metabolic disorders detected by both standard and tandem mass spectrometry newborn screening.

Conclusion: These disease-specific care plans are used at multiple metabolic clinics throughout the Mountain States region. The shared datasets consisting of both performance and outcome indicators will be used to explore questions related to the treatment and outcome of these rare metabolic disorders. They will be used to assess the impact of newborn screening by comparing those individuals detected by newborn screening with those individuals diagnosed clinically, therefore allowing the systematic investigation of factors that impact long-term outcome.
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http://dx.doi.org/10.1097/GIM.0b013e3181fe5d50DOI Listing
December 2010