Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening.

DD, Koeberl; DS, Millington; WE, Smith; SD, Weavil; J, Muenzer; SE, McCandless; PS, Kishnani; MT, McDonald; S, Chaing; A, Boney; E, Moore; DM, Frazier

doi:10.1023/a:1024015227863

Public

Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening.

Shared by NobleBlocks on Jan 1, 2003 • 12:00 AM UTC

Authors:

Koeberl DD

Millington DS

Smith WE

Abstract

Since the addition of tandem mass spectrometry (MS/MS) to the North Carolina Newborn Screening Program, 20 infants with two consecutive elevated 3-hydroxyisovalerylcarnitine (C5OH) levels have been evaluated for evidence of inborn errors of metabolism associated with this metabolite. Ten of these 20...

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