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Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening.

Publication ,  Journal Article
Koeberl, DD; Young, SP; Gregersen, NS; Vockley, J; Smith, WE; Benjamin, DK; An, Y; Weavil, SD; Chaing, SH; Bali, D; McDonald, MT; Kishnani, PS ...
Published in: Pediatr Res
August 2003

Tandem mass spectrometry was adopted for newborn screening by North Carolina in April 1999. Since then, three infants with short-chain acyl-CoA dehydrogenase (SCAD) and one with isobutyryl-CoA dehydrogenase deficiency were detected on the basis of elevated butyrylcarnitine/isobutyrylcarnitine (C4-carnitine) concentrations in newborn blood spots analyzed by tandem mass spectrometry. For three SCAD-deficient infants, biochemical evaluation included a plasma acylcarnitine profile with markedly elevated C4-carnitine, urine organic acid analysis with markedly elevated ethylmalonic and 2-methylsuccinic acids, and markedly elevated [U-13C]butyrylcarnitine concentrations in medium from fibroblasts incubated with [U-13C]palmitic acid and excess l-carnitine, consistent with classic SCAD deficiency. Two of three infants diagnosed with classic SCAD deficiency remained asymptomatic; however, the third infant presented with seizures and a cerebral infarct at 10 wk of age. All three infants had putatively inactivating mutations in both alleles of the SCAD gene. The highly elevated plasma C4-carnitine levels in the three infants detected by newborn screening tandem mass spectrometry differentiated them from infants and children who were homozygous or compound heterozygous for one of two SCAD gene susceptibility variations; for the latter group the C4-carnitine levels were normal. Isobutyryl-CoA dehydrogenase deficiency in a fourth infant was confirmed after isolated elevation of C4-carnitine in the acylcarnitine profile.

Duke Scholars

Published In

Pediatr Res

DOI

ISSN

0031-3998

Publication Date

August 2003

Volume

54

Issue

2

Start / End Page

219 / 223

Location

United States

Related Subject Headings

  • Pediatrics
  • Oxidoreductases Acting on CH-CH Group Donors
  • Neonatal Screening
  • Metabolism, Inborn Errors
  • Mass Spectrometry
  • Infant, Newborn
  • Humans
  • Fibroblasts
  • Cells, Cultured
  • Carnitine
 

Citation

APA
Chicago
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MLA
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Koeberl, D. D., Young, S. P., Gregersen, N. S., Vockley, J., Smith, W. E., Benjamin, D. K., … Millington, D. S. (2003). Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening. Pediatr Res, 54(2), 219–223. https://doi.org/10.1203/01.PDR.0000074972.36356.89
Koeberl, Dwight D., Sarah P. Young, Niels S. Gregersen, Jerry Vockley, Wendy E. Smith, Daniel Kelly Benjamin, Yan An, et al. “Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening.Pediatr Res 54, no. 2 (August 2003): 219–23. https://doi.org/10.1203/01.PDR.0000074972.36356.89.
Koeberl DD, Young SP, Gregersen NS, Vockley J, Smith WE, Benjamin DK, et al. Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening. Pediatr Res. 2003 Aug;54(2):219–23.
Koeberl, Dwight D., et al. “Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening.Pediatr Res, vol. 54, no. 2, Aug. 2003, pp. 219–23. Pubmed, doi:10.1203/01.PDR.0000074972.36356.89.
Koeberl DD, Young SP, Gregersen NS, Vockley J, Smith WE, Benjamin DK, An Y, Weavil SD, Chaing SH, Bali D, McDonald MT, Kishnani PS, Chen Y-T, Millington DS. Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening. Pediatr Res. 2003 Aug;54(2):219–223.

Published In

Pediatr Res

DOI

ISSN

0031-3998

Publication Date

August 2003

Volume

54

Issue

2

Start / End Page

219 / 223

Location

United States

Related Subject Headings

  • Pediatrics
  • Oxidoreductases Acting on CH-CH Group Donors
  • Neonatal Screening
  • Metabolism, Inborn Errors
  • Mass Spectrometry
  • Infant, Newborn
  • Humans
  • Fibroblasts
  • Cells, Cultured
  • Carnitine