Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency

C. Cavicchi, S. Malvagia, G. la Marca, S. Gasperini, M. A. Donati, E. Zammarchi, R. Guerrini, A. Morrone, E. Pasquini

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1292-1295
Number of pages4
JournalJournal of Pharmaceutical and Biomedical Analysis
Volume49
Issue number5
DOIs
Publication statusPublished - Jul 12 2009

Keywords

  • Expanded newborn screening
  • Hypocitrullinemia
  • Molecular analysis
  • Ornithine transcarbamylase deficiency (OTCD)
  • OTC gene

ASJC Scopus subject areas

  • Analytical Chemistry
  • Drug Discovery
  • Pharmaceutical Science
  • Spectroscopy
  • Clinical Biochemistry

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