title: Hyperammonemic coma in a post-partum patient with undiagnosed urea cycle defect.
abstract: Urea cycle disorders (UCD) are common during neonatal period, and it is rarely reported in adults. We are reporting a patient presenting with post-partum neuropsychiatric symptoms rapidly progressing to coma. Markedly raised serum ammonia level on presentation with an initial normal magnetic resonance imaging (MRI) of brain and normal liver function tests led to the suspicion of UCD, which was confirmed on the basis of urine orotic acid and elevated serum amino acid levels. We had to resort to hemodialysis to correct the hyperammonemic coma, which was unresponsive to conventional anti-ammonia measures. She exhibited remarkable improvement with a progressive decline in serum ammonia with repeated hemodialysis and made a full recovery. Timely diagnosis and early institution of hemodialysis in the setting of a poor neurological status maybe considered a suitable treatment option.
authors: Department of Critical Care Medicine, Indraprastha Apollo Hospital, New Delhi, India.
authors: Sananta Kumar
authors: SK
authors: Dash
authors: Munish
authors: M
authors: Chauhan
authors: Vishakh
authors: V
authors: Varma
authors: Rakesh
authors: R
authors: Sharma
authors: Sudha
authors: S
authors: Kansal
authors: Rajesh
authors: R
authors: Chawla
keywords: Hyperammonemic coma; post-partum patient; urea cycle defect
references: West J Med. 1994 Aug;161(2):166-8
references: 7941540
references: Clin Invest Med. 1991 Aug;14(4):320-4
references: 1782729
references: Drugs. 1995 Mar;49(3):467-84
references: 7774516
references: Neuroradiology. 2001 Oct;43(10):845-7
references: 11688701
references: N Engl J Med. 1986 Sep 18;315(12):744-7
references: 3748082
references: Dig Dis Sci. 2000 Aug;45(8):1549-52
references: 11007104
references: J Chromatogr B Analyt Technol Biomed Life Sci. 2002 Dec 5;781(1-2):57-71
references: 12450653
references: Intern Med. 1997 Jun;36(6):408-12
references: 9213187
references: N Engl J Med. 2007 May 31;356(22):2282-92
references: 17538087
references: Am J Obstet Gynecol. 2010 Jul;203(1):e10-1
references: 20471629
references: Curr Probl Pediatr. 1984 Nov;14(11):1-69
references: 6510017
references: Mol Genet Metab. 2004 Apr;81 Suppl 1:S79-85
references: 15050979
references: J Pediatr. 1991 Dec;119(6):923-8
references: 1720458