221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative

Kristi Bentler, Shaohui Zhai, Sara A. Elsbecker, Georgianne L. Arnold, Barbara K. Burton, Jerry Vockley, Cynthia A. Cameron, Sally J. Hiner, Mathew J. Edick, Susan A. Berry, Janet Thomas, Melinda Dodge, Rani Singh, Sangeetha Lakshman, Katie Coakley, Adrya Stembridge, Alvaro Serrano Russi, Emily Phillips, Barbara Burton, Clare EdanoSheela Shrestha, George Hoganson, Lauren Dwyer, Bryan Hainline, Susan Romie, Sarah Hainline, Alexander Asamoah, Kara Goodin, Cecilia Rajakaruna, Kelly Jackson, Ada Hamosh, Hilary Vernon, Nancy Smith, Ayesha Ahmad, Sue Lipinski, Gerald Feldman, Susan Berry, Sara Elsbecker, Kristi Bentler, Esperanza Font-Montgomery, Dawn Peck, Loren D M Pena, Dwight D. Koeberl, Yong hui Jiang, Priya S. Kishnani, William Rizzo, Machelle Dawson, Nancy Ambrose, Paul Levy, David Kronn, Chin to Fong, Kristin D'Aco, Theresa Hart, Richard Erbe, Melissa Samons, Nancy Leslie, Racheal Powers, Dennis Bartholomew, Melanie Goff, Sandy vanCalcar, Joyanna Hansen, Georgianne Arnold, Jerry Vockley, Cate Walsh-Vockley, William Rhead, David Dimmock, Paula Engelking, Cassie Bird, Ashley Swan, Jessica Scott Schwoerer, Sonja Henry, Tara Chandra Narumanchi, Marybeth Hummel, Jennie Wilkins, Laura Davis-Keppen, Quinn Stein, Rebecca Loman, Cynthia Cameron, Mathew J. Edick, Sally J. Hiner, Kaitlin Justice, Shaohui Zhai

Research output: Contribution to journalArticlepeer-review

15 Scopus citations


Introduction There is limited understanding of relationships between genotype, phenotype and other conditions contributing to health in neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) identified through newborn screening. Methods Retrospective analysis of comprehensive data from a cohort of 221 newborn-screened subjects identified as affected with MCADD in the Inborn Errors of Metabolism – Information System (IBEM-IS), a long term follow-up database of the Inborn Errors of Metabolism Collaborative, was performed. Results The average age at notification of first newborn screen results to primary care or metabolic providers was 7.45 days. The average octanoylcarnitine (C8) value on first newborn screen was 11.2 μmol/L (median 8.6, range 0.36–43.91). A higher C8 level correlated with an earlier first subspecialty visit. Subjects with low birth weight had significantly lower C8 values. Significantly higher C8 values were found in symptomatic newborns, in newborns with abnormal lab testing in addition to newborn screening and/or diagnostic tests, and in subjects homozygous for the c.985A > G ACADM gene mutation or compound heterozygous for the c.985A > G mutation and deletions or other known highly deleterious mutations. Subjects with neonatal symptoms, or neonatal abnormal labs, or neonatal triggers were more likely to have at least one copy of the severe c.985A > G ACADM gene mutation. C8 and genotype category were significant predictors of the likelihood of having neonatal symptoms. Neonates with select triggers were more likely to have symptoms and laboratory abnormalities. Conclusions This collaborative study is the first in the United States to describe health associations of a large cohort of newborn-screened neonates identified as affected with MCADD. The IBEM-IS has utility as a platform to better understand the characteristics of individuals with newborn-screened conditions and their follow-up interactions with the health system.

Original languageEnglish (US)
Pages (from-to)75-82
Number of pages8
JournalMolecular Genetics and Metabolism
Issue number1-2
StatePublished - Sep 1 2016


  • Inborn error of metabolism
  • MCAD
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency
  • Newborn screening
  • Octanoylcarnitine

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology


Dive into the research topics of '221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative'. Together they form a unique fingerprint.

Cite this