Expanded newborn screening identifies maternal primary carnitine deficiency

Lisa A. Schimmenti; Eric A. Crombez; Bernd C. Schwahn; Bryce A. Heese; Timothy C. Wood; Richard J. Schroer; Kristi Bentler; Stephen Cederbaum; Kiki Sarafoglou; Mark McCann; Piero Rinaldo; Dietrich Matern; Cristina Amat di San Filippo; Marzia Pasquali; Susan A. Berry; Nicola Longo

doi:10.1016/j.ymgme.2006.10.003

Expanded newborn screening identifies maternal primary carnitine deficiency

Lisa A. Schimmenti, Eric A. Crombez, Bernd C. Schwahn, Bryce A. Heese, Timothy C. Wood, Richard J. Schroer, Kristi Bentler, Stephen Cederbaum, Kiki Sarafoglou, Mark McCann, Piero Rinaldo, Dietrich Matern, Cristina Amat di San Filippo, Marzia Pasquali, Susan A. Berry, Nicola Longo

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Abstract

Primary carnitine deficiency impairs fatty acid oxidation and can result in hypoglycemia, hepatic encephalopathy, cardiomyopathy and sudden death. We diagnosed primary carnitine deficiency in six unrelated women whose unaffected infants were identified with low free carnitine levels (C0) by newborn screening using tandem mass spectrometry. Given the lifetime risk of morbidity or sudden death, identification of adult patients with primary carnitine deficiency is an added benefit of expanded newborn screening programs.

Original language	English (US)
Pages (from-to)	441-445
Number of pages	5
Journal	Molecular Genetics and Metabolism
Volume	90
Issue number	4
DOIs	https://doi.org/10.1016/j.ymgme.2006.10.003
State	Published - Apr 2007

Bibliographical note

Funding Information:
Supported in part by Grant DK 53824 from the National Institutes of Health (N.L.).

Keywords

Carnitine deficiency
Carnitine transport
Maternal disease
Newborn screening
OCTN2
Sudden death
Inborn errors of metabolism

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Schimmenti, L. A., Crombez, E. A., Schwahn, B. C., Heese, B. A., Wood, T. C., Schroer, R. J., Bentler, K., Cederbaum, S., Sarafoglou, K., McCann, M., Rinaldo, P., Matern, D., di San Filippo, C. A., Pasquali, M., Berry, S. A., & Longo, N. (2007). Expanded newborn screening identifies maternal primary carnitine deficiency. Molecular Genetics and Metabolism, 90(4), 441-445. https://doi.org/10.1016/j.ymgme.2006.10.003

Schimmenti, LA, Crombez, EA, Schwahn, BC, Heese, BA, Wood, TC, Schroer, RJ, Bentler, K, Cederbaum, S, Sarafoglou, K, McCann, M, Rinaldo, P, Matern, D, di San Filippo, CA, Pasquali, M, Berry, SA & Longo, N 2007, 'Expanded newborn screening identifies maternal primary carnitine deficiency', Molecular Genetics and Metabolism, vol. 90, no. 4, pp. 441-445. https://doi.org/10.1016/j.ymgme.2006.10.003

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title = "Expanded newborn screening identifies maternal primary carnitine deficiency",

abstract = "Primary carnitine deficiency impairs fatty acid oxidation and can result in hypoglycemia, hepatic encephalopathy, cardiomyopathy and sudden death. We diagnosed primary carnitine deficiency in six unrelated women whose unaffected infants were identified with low free carnitine levels (C0) by newborn screening using tandem mass spectrometry. Given the lifetime risk of morbidity or sudden death, identification of adult patients with primary carnitine deficiency is an added benefit of expanded newborn screening programs.",

keywords = "Carnitine deficiency, Carnitine transport, Maternal disease, Newborn screening, OCTN2, Sudden death, Inborn errors of metabolism",

author = "Schimmenti, {Lisa A.} and Crombez, {Eric A.} and Schwahn, {Bernd C.} and Heese, {Bryce A.} and Wood, {Timothy C.} and Schroer, {Richard J.} and Kristi Bentler and Stephen Cederbaum and Kiki Sarafoglou and Mark McCann and Piero Rinaldo and Dietrich Matern and {di San Filippo}, {Cristina Amat} and Marzia Pasquali and Berry, {Susan A.} and Nicola Longo",

note = "Funding Information: Supported in part by Grant DK 53824 from the National Institutes of Health (N.L.).",

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AU - Wood, Timothy C.

AU - Schroer, Richard J.

AU - Bentler, Kristi

AU - Cederbaum, Stephen

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AU - Matern, Dietrich

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AU - Berry, Susan A.

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KW - Newborn screening

KW - OCTN2

KW - Sudden death

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Expanded newborn screening identifies maternal primary carnitine deficiency

Abstract

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Keywords

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