Next Article in Journal
Newborn Screening for Gaucher Disease: The New Jersey Experience
Previous Article in Journal
An Explorative Qualitative Study of the Role of a Genetic Counsellor to Parents Receiving a Diagnosis After a Positive Newborn Bloodspot Screening
 
 
Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
Journals
IJNS
Volume 11
Issue 2
10.3390/ijns11020033
IJNS-logo
Submit to this Journal Review for this Journal Propose a Special Issue
► Article Menu

Article Menu

share Share announcement Help format_quote Cite question_answer Discuss in SciProfiles
first_page
settings
Order Article Reprints
Font Type:
Arial Georgia Verdana
Font Size:
Aa Aa Aa
Line Spacing:
Column Width:
Background:
Article

Characteristic Findings of Infants with Transient Elevation of Acylcarnitines in Neonatal Screening and Neonatal Weight Loss

by
Sakura Morishima
1,
Yumi Shimada
1,
Yoriko Watanabe
2,3 and
Kenji Ihara
1,*
1
Department of Pediatrics, Oita University School of Medicine, Yufu-City 879-5593, Japan
2
Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume 830-0011, Japan
3
Research Institute of Medical Mass Spectrometry, Kurume University School of Medicine, Kurume 830-0011, Japan
*
Author to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2025, 11(2), 33; https://doi.org/10.3390/ijns11020033
Submission received: 17 March 2025 / Revised: 20 April 2025 / Accepted: 25 April 2025 / Published: 29 April 2025
Browse Figures
Review Reports Versions Notes

Abstract

The detection of elevated long-chain acylcarnitine levels, particularly C14:1 and the C14:1/C2 ratio, during neonatal screening may indicate very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD), although similar findings can result from postnatal starvation. We investigated the relationship between false-positive results, postnatal weight loss, and subsequent growth. Additionally, we explored potential diagnostic markers of postnatal starvation. The following neonates from Oita Prefecture (April 2014–March 2024) were included in this study: patients identified as false-positive for VLCADD (n = 19), patients with VLCADD (n = 3), and children negative in mass screening who completed their 3-year-old health check-up (n = 30). The false-positive group exhibited significant weight loss at blood sampling for neonatal screening. An acylcarnitine analysis showed significant increases in various short- to long-chain fatty acids in the false-positive group, likely owing to enhanced fatty acid catabolism via β-oxidation. Elevation of a broad range of fatty acids and reduced amino acid levels seemed to be associated with significant weight loss at blood sampling.
Keywords: very-long-chain acyl-CoA dehydrogenase deficiency; false-positive results; postnatal starvation; mass screening; acylcarnitines; amino acids very-long-chain acyl-CoA dehydrogenase deficiency; false-positive results; postnatal starvation; mass screening; acylcarnitines; amino acids

Share and Cite

MDPI and ACS Style

Morishima, S.; Shimada, Y.; Watanabe, Y.; Ihara, K. Characteristic Findings of Infants with Transient Elevation of Acylcarnitines in Neonatal Screening and Neonatal Weight Loss. Int. J. Neonatal Screen. 2025, 11, 33. https://doi.org/10.3390/ijns11020033

AMA Style

Morishima S, Shimada Y, Watanabe Y, Ihara K. Characteristic Findings of Infants with Transient Elevation of Acylcarnitines in Neonatal Screening and Neonatal Weight Loss. International Journal of Neonatal Screening. 2025; 11(2):33. https://doi.org/10.3390/ijns11020033

Chicago/Turabian Style

Morishima, Sakura, Yumi Shimada, Yoriko Watanabe, and Kenji Ihara. 2025. "Characteristic Findings of Infants with Transient Elevation of Acylcarnitines in Neonatal Screening and Neonatal Weight Loss" International Journal of Neonatal Screening 11, no. 2: 33. https://doi.org/10.3390/ijns11020033

APA Style

Morishima, S., Shimada, Y., Watanabe, Y., & Ihara, K. (2025). Characteristic Findings of Infants with Transient Elevation of Acylcarnitines in Neonatal Screening and Neonatal Weight Loss. International Journal of Neonatal Screening, 11(2), 33. https://doi.org/10.3390/ijns11020033

Note that from the first issue of 2016, this journal uses article numbers instead of page numbers. See further details here.

Article Metrics

Back to TopTop