Workload and short-term outcome of babies weighing 2,500 grams or more at birth admitted to the paediatric unit of the Rotunda Hospital.

Background: Audit is important in ensuring adequate use of resources and maintaining optimum standards of care. Most of the emphasis in neonatal audit is focused on very low birth weight infants. However, term and near-term infants account for a significant proportion of the workload in neonatal units and warrant regular audit.

Fatal presentation of ornithine transcarbamylase deficiency in a 62-year-old man and family studies.

Ornithine transcarbamylase deficiency (OTCD) resulting from deficiency of the mitochondrial enzyme OTC shows extensive phenotypic heterogeneity influenced by allelic heterogeneity and modifying environmental influences such as protein intake. We report the fatal late-onset presentation of OTCD in a 62-year-old man with the V337L mutation, a previous presentation in his grandson and negative clinical and biochemical screening of the proband's three daughters.