Rebecca C Ahrens-Nicklas1, Louise C Pyle1, Can Ficicioglu1. 1. Section of Metabolic Disease, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Abstract
PURPOSE: Despite greatly improved morbidity and mortality among infants with medium-chain acyl-CoA dehydrogenase deficiency (MCAD) since the implementation of universal newborn screening (NBS), a population of neonates still becomes ill before their positive screen results are available. Exclusive breastfeeding is a proposed risk factor in this group. Since initial studies of MCAD NBS, breastfeeding rates have increased substantially. In this study, we quantify the current risk of early decompensation in neonates with MCAD and identify factors associated with poor outcomes. METHODS: We completed a retrospective analysis of neonates with MCAD referred to our center between 2010 and 2015. RESULTS: Of 46 infants with MCAD, 11 (23.9%) were symptomatic before the return of the NBS results. Four died or had cardiac arrest; the remaining seven had lethargy and hypoglycemia. All symptomatic patients were exclusively breastfed; only 40.6% of asymptomatic patients were exclusively breastfed. Breastfeeding rates increased from 45.5% in 2010-2011 to 64.7% in 2012-2013 and 87.5% in 2014-2015. Over these same periods, rates of early decompensation increased from 9.09% to 23.5% and 75%, respectively. CONCLUSIONS: Exclusively breastfed neonates with MCAD are at risk for early metabolic decompensation. As breastfeeding rates increase, close management of feeding difficulties is essential for all neonates awaiting NBS results.Genet Med 18 12, 1315-1319.
PURPOSE: Despite greatly improved morbidity and mortality among infants with medium-chain acyl-CoA dehydrogenase deficiency (MCAD) since the implementation of universal newborn screening (NBS), a population of neonates still becomes ill before their positive screen results are available. Exclusive breastfeeding is a proposed risk factor in this group. Since initial studies of MCAD NBS, breastfeeding rates have increased substantially. In this study, we quantify the current risk of early decompensation in neonates with MCAD and identify factors associated with poor outcomes. METHODS: We completed a retrospective analysis of neonates with MCAD referred to our center between 2010 and 2015. RESULTS: Of 46 infants with MCAD, 11 (23.9%) were symptomatic before the return of the NBS results. Four died or had cardiac arrest; the remaining seven had lethargy and hypoglycemia. All symptomatic patients were exclusively breastfed; only 40.6% of asymptomatic patients were exclusively breastfed. Breastfeeding rates increased from 45.5% in 2010-2011 to 64.7% in 2012-2013 and 87.5% in 2014-2015. Over these same periods, rates of early decompensation increased from 9.09% to 23.5% and 75%, respectively. CONCLUSIONS: Exclusively breastfed neonates with MCAD are at risk for early metabolic decompensation. As breastfeeding rates increase, close management of feeding difficulties is essential for all neonates awaiting NBS results.Genet Med 18 12, 1315-1319.
Authors: Jennifer R Miller; Valerie J Flaherman; Eric W Schaefer; Michael W Kuzniewicz; Sherian X Li; Eileen M Walsh; Ian M Paul Journal: Hosp Pediatr Date: 2015-05
Authors: Ho-Wen Hsu; Thomas H Zytkovicz; Anne Marie Comeau; Arnold W Strauss; Deborah Marsden; Vivian E Shih; George F Grady; Roger B Eaton Journal: Pediatrics Date: 2008-05 Impact factor: 7.124
Authors: Maria D Karaceper; Sara D Khangura; Kumanan Wilson; Doug Coyle; Marni Brownell; Christine Davies; Linda Dodds; Annette Feigenbaum; Deshayne B Fell; Scott D Grosse; Astrid Guttmann; Steven Hawken; Robin Z Hayeems; Jonathan B Kronick; Anne-Marie Laberge; Julian Little; Aizeddin Mhanni; John J Mitchell; Meranda Nakhla; Murray Potter; Chitra Prasad; Cheryl Rockman-Greenberg; Rebecca Sparkes; Sylvia Stockler; Keiko Ueda; Hilary Vallance; Brenda J Wilson; Pranesh Chakraborty; Beth K Potter Journal: Orphanet J Rare Dis Date: 2019-03-22 Impact factor: 4.123