Positive newborn screen in a normal infant of a mother with asymptomatic very long-chain Acyl-CoA dehydrogenase deficiency

Robin R McGoey; Michael Marble

doi:10.1016/j.jpeds.2011.01.063

Positive newborn screen in a normal infant of a mother with asymptomatic very long-chain Acyl-CoA dehydrogenase deficiency

J Pediatr. 2011 Jun;158(6):1031-2. doi: 10.1016/j.jpeds.2011.01.063. Epub 2011 Mar 22.

Authors

Robin R McGoey¹, Michael Marble

Affiliation

¹ Department of Pathology, Louisiana State University Health Sciences Center, New Orleans, LA, USA.

PMID: 21429517
DOI: 10.1016/j.jpeds.2011.01.063

Abstract

A neonate with elevated tetradecenoylcarnitine (C14:1) on the newborn screen was evaluated for possible very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) and found to be a carrier. However, his symptom-free mother was subsequently diagnosed with VLCADD. This documents maternal VLCADD causing a positive newborn screening result in an offspring.

Publication types

Case Reports

MeSH terms

Acyl-CoA Dehydrogenase, Long-Chain / blood
Acyl-CoA Dehydrogenase, Long-Chain / deficiency
Carnitine / analogs & derivatives
Carnitine / blood
Congenital Bone Marrow Failure Syndromes
Female
Genotype
Humans
Infant, Newborn
Lipid Metabolism, Inborn Errors
Male
Metabolism, Inborn Errors / blood
Metabolism, Inborn Errors / diagnosis
Mitochondrial Diseases / blood
Mitochondrial Diseases / diagnosis
Mothers
Muscular Diseases / blood
Muscular Diseases / diagnosis
Neonatal Screening / methods*
Phenotype

Substances

acylcarnitine
Acyl-CoA Dehydrogenase, Long-Chain
Carnitine

Supplementary concepts

VLCAD deficiency