Details:

Alternative Title:
Clin Chim Acta
Publisher's site:
http://dx.doi.org/10.1016/j.cca.2015.09.012
Personal Author:
Malvagia, Sabrina ; Haynes, Christopher A. ; Grisotto, Laura ; Ombrone, Daniela ; Funghini, Silvia ; ... More +
Malvagia, Sabrina ; Haynes, Christopher A. ; Grisotto, Laura ; Ombrone, Daniela ; Funghini, Silvia ; Moretti, Elisa ; McGreevy, Kathleen ; Buggeri, Annibale ; Guerrini, Renzo ; Yahyaoui, Raquel ; Garg, Uttam ; Seeterlin, Mary ; Chace, Donald ; De Jesus, Victor ; la Marca, Giancarlo Less -
Description:
Background

3-hydroxypalmitoleoyl-carnitine (C16:1-OH) was recently reported to be elevated in acylcarnitine profile of propionic acidemia (PA) or methylmalonic acidemia (MMA) patients during expanded newborn screening (NBS). High levels of C16:1-OH, combined with other hydroxylated long chain acylcarnitines are related to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).

Methods

The acylcarnitine profile of two LCHADD patients was evaluated using liquid chromatography-tandem mass spectrometric method. A specific retention time was reported for each hydroxylated long chain acylcarnitine. The same method was applied to some neonatal dried blood spots (DBS) from PA and MMA patients presenting abnormal C16:1-OH concentrations.

Results

The final retention time of the peak corresponding to C16:1-OH in LCHADD patients differed from those in MMA and PA patients. Heptadecanoylcarnitine (C17) has been identified as the novel biomarker specific for PA and MMA patients through high resolution mass spectrometry (Orbitrap) experiments. We found that 21 out of 23 neonates (22 MMA, and 1PA) diagnosed through the Tuscany region NBS program had significantly higher levels of C17 compared to levels detected in controls.

Conclusions

This paper reports on the characterization of a novel biomarker able to detect propionate disorders during expanded newborn screening (NBS). The use of this new biomarker may improve the analytical performances of NBS programs especially in laboratories where second tier tests are not performed.


Subject:
[+]
Acylcarnitine
Amino Acid Metabolism, Inborn Errors
Article
Biomarkers
Carnitine
Expanded Newborn Screening
Heptadecanoylcarnitine
Humans
Infant, Newborn
Methylmalonic Acidemia
Neonatal Screening
Propionic Acidemia
Retrospective Studies
Propionic Acidemia

Source:
Clin Chim Acta. 450:342-348.
Pubmed ID:
26368264
Pubmed Central ID:
PMC5577792
Document Type:
Journal Article
Funding:
CC999999/Intramural CDC HHS/United States
Collection(s):
CDC Public Access
Main Document Checksum:
[+]
urn:sha256:7409cc2c0c6545e4d42f3135e496832ae5fe52932ded49cea0a7e3068ca0abd5
File Type:

Supporting Files

• 	NIHMS828806-supplement-Captions_for_Supplemental_Figures.doc	doc
  	NIHMS828806-supplement-Figure_S1.ppt	ppt
  	NIHMS828806-supplement-Figure_S2.docx	docx
  	NIHMS828806-supplement-Figure_S3.ppt	ppt
  	nihms828806.nxml	bin
  	nihms828806f1.gif	gif
  	nihms828806f1.jpg	jpeg

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