Reducing the False-Positive Rate for Isovalerylcarnitine in Expanded Newborn Screening: The Application of a Second-Tier Test
J. inborn errors metab. screen
;
4: e160012, 2016. tab, graf
Artículo
en Inglés
|
LILACS-Express
| LILACS
| ID: biblio-1090916
ABSTRACT
Abstract The isodecyl neopentanoate is an ingredient used in the cosmetic industry to prepare a nipple fissure balm. We report on 12 newborns that showed elevated C5-acylcarnitine levels upon newborn screening following treatment with balm. The first 3 neonates were immediately recalled for confirmatory tests and resulted negative for both isovaleric acidemia and short/branched chain acyl-CoA dehydrogenase deficiency. In the other 9 cases, the immediate recall was avoided by applying a new second-tier test able to confirm the presence of pivaloylcarnitine. The concentration of C5-acylcarnitine was measured in the days following the suspension of balm application. Abnormal concentrations of C5-acylcarnitine did not seem to be associated with free carnitine deficiency, probably due to the short time of exposure. A direct correlation between balm ingestion and the elevation in pivaloylcarnitine has been demonstrated in 10 adult volunteers. The commercial balm containing a pivalic acid derivative is causal of false-positive results during newborn screening, and it could have the potential to cause secondary carnitine deficiency when used chronically.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Tipo de estudio:
Estudio diagnóstico
/
Estudio de tamizaje
Idioma:
Inglés
Revista:
J. inborn errors metab. screen
Asunto de la revista:
Medicina Cl¡nica
/
Patologia
Año:
2016
Tipo del documento:
Artículo
País de afiliación:
Italia
Institución/País de afiliación:
Meyer Children's University Hospital/IT
/
P.O.G. Di Cristina/IT
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