Elevated neonatal 3-OH isovalerylcarnitine due to breast milk sources in maternal 3-MCC deficiency
Abstract
We report a positive newborn screen for 3-hydroxyisovalerylcarnitine (C(5)OH) with an absence of 3-methylcrotonyl-coenzyme A carboxylase deficiency in the neonate. Subsequent blood tests demonstrated persistently elevated C(5)OH. Serial testing of the mother identified markedly elevated C(5)OH in both maternal blood and breast milk. High C(5)OH milk concentrations provide a significant source of C(5)OH to the nursing neonate and possibly explains its persistent elevation in the neonate, a commonly observed finding in maternal 3-MCC deficiency.
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Clinically silent disease has been detected in asymptomatic mothers of babies subjected to screening programs, apparently because small amounts of the mother's metabolites are transferred to the unaffected baby through the placenta, breast milk or other routes.
“In some cases, clinically silent “disease” has been detected in the asymptomatic mothers of babies subjected to screening programs, apparently because small amounts of the mother’s metabolites are transferred to the unaffected baby through the placenta, breast milk or other routes (Eichhorst et al., 2010).”
From Cellular Metabolism and Disease: What Do Metabolic Outliers Teach Us? (2012) · cites this paper as Eichhorst et al., 2010
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References 13 · Cited by 8
- Authors
- Eichhorst, J., Alcorn, J., LePage, J., Etter, M., Antonishyn, N. A., Fitterer, B., Birch, D. A., Agopsowicz, K. L., Ruthnum, L., Greenberg, C. R., & Lehotay, D. C.
- Affiliations
- University of Saskatchewan (CA)
- Saskatchewan Disease Control Laboratory (CA)
- Regina General Hospital (CA)
- University of Manitoba (CA)
- Corresponding author
- Lehotay, Denis C.
- Venue
- Molecular Genetics and Metabolism
- Publisher
- Elsevier BV
- Published
- 2010-09
- Volume
- 101
- Issue
- 1
- Pages
- 84-86
- ISSN
- 1096-7192 (ISSN-L)
- OpenAlex
- W2088155296
- Cited by
- 8
- References
- 13
- Citations by year
- 2025: 1 · 2024: 1 · 2020: 1 · 2016: 1 · 2014: 1 · 2013: 1 · 2012: 1
- FWCI
- 0.60
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Molecular Genetics and Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Neonatal Health and Biochemistry
- Keywords
- 3-methylcrotonyl-CoA carboxylase deficiency, breast milk, maternal transfer, newborn screening, isovaleric acidemia
- MeSH terms
- Carnitine, Female, Humans, Infant, Newborn, Milk, Human, Neonatal Screening, Carbon-Carbon Ligases
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