Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges

Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges

With the implementation of tandem mass spectrometry (MS/MS), neonatal screening for medium-chain acyl-CoA dehydrogenase (MCADD) has been introduced in many screening programs worldwide. Together with phenylketonuria, MCADD is the disorder most frequently diagnosed. Despite undeniable beneficial effe...

Full description

Bibliographic Details
Main Author:	Esther M. Maier
Format:	Article
Language:	English
Published:	MDPI AG 2015-11-01
Series:	International Journal of Neonatal Screening
Subjects:	medium-chain acyl-CoA dehydrogenase neonatal screening newborn screening tandem mass spectrometry confirmation of positive screening results
Online Access:	http://www.mdpi.com/2409-515X/1/3/79

Similar Items

Neonatal Screening for Medium-Chain Acyl-CoA Dehydrogenase Deficiency—Alternative Approaches
by: Rodney J. Pollitt
Published: (2016-03-01)

Clinical, Biochemical, and Molecular Analyses of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients
by: Zhuwen Gong, et al.
Published: (2021-03-01)

Cost-effectiveness analysis of universal newborn screening for medium chain acyl-CoA dehydrogenase deficiency in France
by: Hamers Françoise F, et al.
Published: (2012-06-01)

Compound heterozygous mutations of gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review
by: Se Jin An, et al.
Published: (2016-11-01)

Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency
by: MariaAnna Messina, et al.
Published: (2020-07-01)

FLAD1‐associated multiple acyl‐CoA dehydrogenase deficiency identified by newborn screening
by: Kai Muru, et al.
Published: (2019-09-01)

Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada
by: Maria D. Karaceper, et al.
Published: (2019-03-01)

Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening
by: Gwendolyn Gramer, et al.
Published: (2021-06-01)

Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency
by: Jessica Scott Schwoerer, et al.
Published: (2015-06-01)

Biochemical, Clinical, and Genetic Characteristics of Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients by Newborn Screening
by: Yiming Lin, et al.
Published: (2019-08-01)

Anesthetic considerations in medium-chain acyl-CoA dehydrogenase deficiency
by: Lisa A Caplan, et al.
Published: (2017-05-01)

MCAD-Deficiency with Severe Neonatal Onset, Fatal Outcome and Normal Acylcarnitine Profile
by: Ralph Fingerhut, et al.
Published: (2017-08-01)

Screening for medium-chain acyl CoA dehydrogenase deficiency: current perspectives
by: Soler-Alfonso C, et al.
Published: (2016-01-01)

Long-term outcome of isobutyryl-CoA dehydrogenase deficiency diagnosed following an episode of ketotic hypoglycaemia
by: S. Santra, et al.
Published: (2017-03-01)

Different viewpoints: International perspectives on newborn screening
by: Pollitt Rodney J.
Published: (2015-01-01)

Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing
by: Aashish N. Adhikari, et al.
Published: (2020-05-01)

Acyl-CoA Dehydrogenase Deficiency and RS
by: J Gordon Millichap
Published: (1994-05-01)

Fibroblast Fatty-Acid Oxidation Flux Assays Stratify Risk in Newborns with Presumptive-Positive Results on Screening for Very-Long Chain Acyl-CoA Dehydrogenase Deficiency
by: Simon E. Olpin, et al.
Published: (2017-02-01)

Dépistage Néonatal de la Drépanocytose: Nouvelles Méthodologies/Newborn Screening for Sickle Cell Disease: New Methodologies
by: BOEMER, François
Published: (2009)

Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *
by: Mengel Eugen, et al.
Published: (2011-06-01)

Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease
by: Shu-Chuan Chiang, et al.
Published: (2018-12-01)

Medium-chain Acyl-CoA dehydrogenase deficiency: a characterization of the most common variant and current and future therapeutics
by: Barbera, Gabrielle
Published: (2018)

Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype
by: Lovera Cristina, et al.
Published: (2012-10-01)

Selective screening in neonates suspected to have inborn errors of metabolism
by: Rabah M. Shawky, et al.
Published: (2015-04-01)

Successful perioperative management of a pediatric patient with medium-chain acyl-CoA dehydrogenase deficiency using a continuous tissue glucose monitoring device: A case report
by: Ito Hidekazu, et al.
Published: (2021-01-01)

New Ratios for Performance Improvement for Identifying Acyl-CoA Dehydrogenase Deficiencies in Expanded Newborn Screening: A Retrospective Study
by: Benjing Wang, et al.
Published: (2019-09-01)

First Results From Expanded Newborn Screening in slovak Republic
by: Dluholucký S., et al.
Published: (2014-08-01)

Exacerbation of myopathy triggered by antiobesity drugs in a patient with multiple acyl-CoA dehydrogenase deficiency
by: Po-Yu Lin, et al.
Published: (2021-02-01)

The Epidemiology and Health System Impact of Medium-Chain Acyl-CoA Dehydrogenase Deficiency Among Affected Children and Those with False Positive Newborn Screening Results in Ontario, Canada
by: Karaceper, Maria D
Published: (2014)

Formation of 3‐hydroxyglutaric acid in glutaric aciduria type I: in vitro participation of medium chain acyl‐CoA dehydrogenase
by: Verena Peters, et al.
Published: (2019-05-01)

Evaluation of diagnostic accuracy of biomarkers of inborn errors of metabolism in sick neonates: A prospective observational study
by: N.B. Mathur, et al.
Published: (2021-04-01)

Clinical course in a patient with myopathic VLCAD deficiency during pregnancy with an affected baby
by: Kenji Yamada, et al.
Published: (2019-09-01)

Late-onset multiple acyl-CoA dehydrogenase deficiency with breast cancer
by: Keechilat Pavithran, et al.
Published: (2020-12-01)

Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study
by: Touw Catharina M L, et al.
Published: (2012-05-01)

Corresponding increase in long-chain acyl-CoA and acylcarnitine after exercise in muscle from VLCAD mice
by: Frank ter Veld, et al.
Published: (2009-08-01)

Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives
by: Francyne Kubaski, et al.
Published: (2020-11-01)

Compartmentalised acyl-CoA metabolism and roles in chromatin regulation
by: Sophie Trefely, et al.
Published: (2020-08-01)

Use of Molecular Genetic Analyses in Danish Routine Newborn Screening
by: Allan Meldgaard Lund, et al.
Published: (2021-07-01)

Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
by: Sara Missaglia, et al.
Published: (2018-11-01)

Long-chain acyl-CoA esters and acyl-CoA binding protein are present in the nucleus of rat liver cells
by: Morten Elholm, et al.
Published: (2000-04-01)