1. Hypocitrullinemia in expanded newborn screening by LC–MS/MS is not a reliable marker for ornithine transcarbamylase deficiency
- Author
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Cavicchi, C., Malvagia, S., la Marca, G., Gasperini, S., Donati, M.A., Zammarchi, E., Guerrini, R., Morrone, A., and Pasquini, E.
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INBORN errors of metabolism , *LIQUID chromatography , *MASS spectrometry , *ORNITHINE carbamoyltransferase , *DEFICIENCY diseases , *BIOMARKERS , *NUCLEOTIDE sequence - Abstract
Abstract: In an expanded newborn screening program for inborn errors of metabolism by LC–MS/MS in Tuscany, six newborns out of 169,000 showed decreased blood citrulline levels. In one of them, molecular analysis of the OTC gene identified the known p.Trp265Leu mutation, which is correlated with late-onset ornithine transcarbamylase deficiency (OTCD). Hypocitrullinemia is not a reliable marker for OTCD newborn screening, especially for late-onset forms that may exhibit normal citrulline levels. However, when hypocitrullinemia is detected in a newborn in whom intestinal dysfunction and prematurity have been excluded, OTCD should be investigated first because of the OTCD incidence (1:14,000) and the small size of the OTC gene coding sequence. [Copyright &y& Elsevier]
- Published
- 2009
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