Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10553627 | Journal of Pharmaceutical and Biomedical Analysis | 2009 | 4 Pages |
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.
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Physical Sciences and Engineering
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Authors
C. Cavicchi, S. Malvagia, G. la Marca, S. Gasperini, M.A. Donati, E. Zammarchi, R. Guerrini, A. Morrone, E. Pasquini,