False-positive Newborn Screening Mimicking Glutaric Aciduria Type I ...

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Abstract

Glutaric aciduria type I (GA I), an autosomal-recessive deficiency of glutaryl-CoA-dehydrogenase, leads to encephalopathic crises resulting in irreversible neurological damage. As early diagnosis and implementation of appropriate treatment has significant benefit for these patients, GA I has been implemented in the extended newborn screening program in several countries. Screening parameter is glutarylcarnitine (C5DC) with its ratios. From 1 January 2005 until 31 December 2008, 173,846 newborns were examined by neonatal screening in our screening center. C5DC and/or at least three C5DC/acylcarnitine ratios were increased in 53 newborns (0.03%) and persisted in 11 infants after recall. GA I was not confirmed in any of these infants, but all 11 infants were suffering from renal insufficiency due to congenital (5/11) or acquired (6/11) renal disease. C5DC was shown to be significantly associated with renal affection and was significantly higher in infants with congenital renal insufficiency than in those with acquired renal insufficiency (p = 0.011). Creatinine correlated significantly with C5DC (p = 0.001) and all C5DC/acylcarnitine ratios, mainly with C5DC/(C8 + C10), C5DC/C0, C5DC/C2, C5DC/C4, and C5DC/C8 (for all: p = 0.001). Glutarylcarnitinemia associated with renal insufficiency has not yet been studied systematically. Renal damage in neonates might lead to disturbances in renal transporter systems of glutaric acid and its metabolites and a decreased excretion of C5DC, thus resulting in an increase of plasma C5DC. Therefore, newborns presenting with a positive screening indicating GA I may be considered not only to suffer from GA I but from renal insufficiency as well.

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References

1. 1. Pediatr Res. 2007 Sep;62(3):357-63 - PubMed
2. 1. Clin Chem. 2001 Nov;47(11):1945-55 - PubMed
3. 1. J Inherit Metab Dis. 2008 Apr;31(2):188-93 - PubMed
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• Amino Acid Metabolism, Inborn Errors / blood Actions
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