Literature DB >> 25948840

Coma query cause.

Georgina Elizabeth Wood1, James McNicholas1.   

Abstract

A 54-year-old woman with coeliac disease was admitted to hospital electively for supplemental nutrition. Shortly after feeding started she deteriorated into a hyperammonemic coma with refeeding syndrome, requiring an extensive intensive care admission. Urea cycle disorders were investigated and a biochemical diagnosis of ornithine transcarbamylase deficiency was made. This is a rare diagnosis in the adult population. This case report summarises protein metabolism, urea cycle disorders and the challenges of management. 2015 BMJ Publishing Group Ltd.

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Year:  2015        PMID: 25948840      PMCID: PMC4434277          DOI: 10.1136/bcr-2014-205592

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  9 in total

1.  Hyperammonaemia. A new instance of an inborn enzymatic defect of the biosynthesis of urea.

Authors:  A RUSSELL; B LEVIN; V G OBERHOLZER; L SINCLAIR
Journal:  Lancet       Date:  1962-10-06       Impact factor: 79.321

2.  Evidence for x-linked dominant inheritance of ornithine transcarbamylase deficiency.

Authors:  E M Short; H O Conn; P J Snodgrass; A G Campbell; L E Rosenberg
Journal:  N Engl J Med       Date:  1973-01-04       Impact factor: 91.245

3.  Hypertransaminasemia in childhood as a marker of genetic liver disorders.

Authors:  Raffaele Iorio; Angela Sepe; Antonietta Giannattasio; Francesco Cirillo; Angela Vegnente
Journal:  J Gastroenterol       Date:  2005-08       Impact factor: 7.527

4.  Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.

Authors:  Saori Yamaguchi; Lisa L Brailey; Hiroki Morizono; Allen E Bale; Mendel Tuchman
Journal:  Hum Mutat       Date:  2006-07       Impact factor: 4.878

5.  Cross-sectional multicenter study of patients with urea cycle disorders in the United States.

Authors:  Mendel Tuchman; Brendan Lee; Uta Lichter-Konecki; Marshall L Summar; Marc Yudkoff; Stephen D Cederbaum; Douglas S Kerr; George A Diaz; Margaretta R Seashore; Hye-Seung Lee; Robert J McCarter; Jeffrey P Krischer; Mark L Batshaw
Journal:  Mol Genet Metab       Date:  2008-06-17       Impact factor: 4.797

6.  Blood levels of ammonia and nitrogen scavenging amino acids in patients with inherited hyperammonemia.

Authors:  M Tuchman; M Yudkoff
Journal:  Mol Genet Metab       Date:  1999-01       Impact factor: 4.797

Review 7.  Inborn errors of metabolism in infancy: a guide to diagnosis.

Authors:  B K Burton
Journal:  Pediatrics       Date:  1998-12       Impact factor: 7.124

Review 8.  Effects of hyperammonaemia on brain function.

Authors:  R F Butterworth
Journal:  J Inherit Metab Dis       Date:  1998       Impact factor: 4.982

9.  Asymptomatic hyperammonemia in patients receiving valproic acid.

Authors:  J V Murphy; K Marquardt
Journal:  Arch Neurol       Date:  1982-09
  9 in total

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