Fatal late-onset ornithine transcarbamylase deficiency after coronary artery bypass surgery

Medical Journal of Australia

Volumn 186, Issue 8, 2007, Pages 418-419

  Chiong, Mary Anne ^a   Bennetts, Bruce H ^a   Strasser, Simone I ^b   Wilcken, Bridget ^c  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b ROYAL PRINCE ALFRED HOSPITAL   (Australia)

^c UNIVERSITY OF SYDNEY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ALANINE; AMMONIA; ARGININE; BENZOIC ACID; CERULOPLASMIN; CITRULLINE; COPPER; CREATININE; GLUCOSE; GLUTAMINE; GUANINE; LIVER ENZYME; METHIONINE; ORNITHINE CARBAMOYLTRANSFERASE; OROTIC ACID; SODIUM; THREONINE; TYROSINE;

ACUTE BRAIN DISEASE; ADULT; AMINO ACID BLOOD LEVEL; AMINO ACID URINE LEVEL; AMMONIA BLOOD LEVEL; ANGIOCARDIOGRAPHY; ARTICLE; BRAIN EDEMA; CASE REPORT; CERULOPLASMIN BLOOD LEVEL; COMPUTER ASSISTED TOMOGRAPHY; COPPER BLOOD LEVEL; CORONARY ARTERY BYPASS GRAFT; DAIRY PRODUCT; DELIRIUM; DETERIORATION; DIETARY INTAKE; DIFFERENTIAL DIAGNOSIS; DISORIENTATION; ENZYME BLOOD LEVEL; ENZYME DEFICIENCY; FATALITY; HEADACHE; HEART INFARCTION; HEMIZYGOSITY; HETEROZYGOSITY; HOSPITAL ADMISSION; HUMAN; HYPERAMMONEMIA; HYPERTENSION; LIVER DYSFUNCTION; LIVER TRANSPLANTATION; MALE; MEAT; MEDICAL RECORD REVIEW; MICROCLIMATE; MUTATIONAL ANALYSIS; NAUSEA; NUCLEIC ACID BASE SUBSTITUTION; ONSET AGE; PHENOTYPE; PROTEIN INTAKE; SCREENING TEST; SYMPTOMATOLOGY; THORAX PAIN; TREATMENT INDICATION; URINALYSIS; VIRUS ENCEPHALITIS; VIRUS MENINGITIS; VOMITING; WILSON DISEASE; X CHROMOSOME LINKAGE;

EID: 34247849411     PISSN: 0025729X     EISSN: None     Source Type: Journal    
DOI: 10.5694/j.1326-5377.2007.tb00976.x     Document Type: Article

References (11)

1. Wilcken B. Problems in the management of urea cycle disorders. Mol Genet Metabol 2004; 81 Suppl 1: S86-S91.
2. Brusilow SW, Horwich AL. Urea cycle enzymes. In: Scriver CR, Beaudet AL, Valle D, Sly WS, editors. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill, 2001: 1909-1964.
3. Summar ML, Barr F, Dawling S, et al. Unmasked adult-onset urea cycle disorders in the critical care setting. Crit Care Clin 2005; 21 (4 Suppl): S1-S8.
4. Ellaway C, Bennetts B, Tuck R, Wilcken B. Clumsiness, confusion, coma and valproate. Lancet 1999; 353: 1408.
5. Ausems M, Bakker E, Berger R, et al. Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family. Am J Med Genet 1997; 68: 236-239.
6. Tuchman M, Morizono H, Rajagopal BS, et al. Identification of "private" mutations in patients with ornithine transcarbamylase deficiency. J Inher Metab Dis 1997; 20: 525-527.
7. Bakker E, Ausems M, Zaremba J, et al. Late onset and asymptomatic ornithine transcarbamylase deficiency (OTCD) caused by an A208T mutation [abstract]. Am J Hum Genet 1995; 57: A235.
8. Raymond K, Bale AE, Barnes CA, Rinaldo P. Medium-chain acyl-CoA dehydrogenase deficiency: sudden and unexpected death of a 45 year old woman. Genet Med 1999; 1: 293-294.
9. Finkestein J, Hauser E, Leonard C, Brusilow S. Late onset ornithine transcarbamylase deficiency in male patients. J Pediatr 1990; 117: 897-902.
10. Thakur V, Rupar CA, Ramsay DA, et al. Fatal cerebral edema from late-onset ornithine transcarbamylase deficiency in a juvenile male patient receiving valproic acid. Pediatr Crit Care Med 2006; 7: 273-276.
11. Rohininath T, Costello DJ, Lynch T, et al. Fatal presentation of ornithine transcarbamylase deficiency in a 62-year-old man and family studies. J Inherit Metab Dis 2004; 27: 285-288.