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Updated: Jun 22, 2026

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale

Published on: August 25, 2014

Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.

Marit Schwantje¹, Rose E Maase², Eugenie Dekkers³

¹Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands.

Journal of Inherited Metabolic Disease

|February 17, 2026

Summary

This summary is machine-generated.

Neonatal C18:2-carnitine levels can predict very-long chain acyl-CoA dehydrogenase deficiency (VLCADD) severity. High levels indicate severe VLCADD requiring intensive management, while low levels suggest milder cases needing preventive dietary measures.

Keywords:

C18:2‐carnitine newborn screening prognosis prediction very long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD)

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Area of Science:

Biochemistry
Genetics
Neonatal Medicine

Background:

Newborn screening (NBS) for very-long chain acyl-CoA dehydrogenase deficiency (VLCADD) faces challenges in predicting clinical outcomes.
Accurate prediction of disease severity is crucial for timely and appropriate patient management.

Purpose of the Study:

To investigate neonatal C18:2-carnitine concentrations as a predictor of VLCADD phenotype and clinical severity.
To analyze the impact of sex, gestational age, sampling day, and birth weight on C18:2-carnitine levels.

Main Methods:

Analysis of NBS-dried blood spots (DBS) from a large cohort of Dutch newborns (n=209,785) to assess C18:2-carnitine.
Investigation of C18:2-carnitine in NBS-DBS and plasma of VLCADD patients (Dutch and German cohorts).
Correlation of normalized C18:2-carnitine concentrations with clinical severity and diagnostic assays.

Main Results:

C18:2-carnitine concentrations are influenced by gestational age, sampling day, birth weight, and sex.
Normalized high C18:2-carnitine reliably identified VLCADD patients with severe phenotypes.
Linoleylcarnitine was identified as the specific differentiating C18:2-carnitine marker.

Conclusions:

Neonatal C18:2-carnitine concentrations serve as a reliable predictor of disease severity immediately following a positive NBS for VLCADD.
High C18:2-carnitine identifies severe VLCADD cases requiring strict dietary management and monitoring.
Low C18:2-carnitine suggests milder VLCADD cases amenable to preventive dietary measures.