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.
Kotani Y, Shiota M, Umemoto M, Tsuritani M, Hoshiai H. Carbamyl phosphate synthetase deficiency and postpartum hyperammonemia. Am J Obstet Gynecol 2010;203:e10-1.
Tuchman M, Holzknecht RA. Heterogeneity of patient with late onset ornithine transcarbamylase deficiency. Clin Invest Med 1991;14:320-4.
Brusilow SW, Horwich AL: Urea cycle enzymes, In: Scriver CR, Beaud, et al. Sly WS, Valle D, Editors. The Metabolic Basis of Inherited Disease. 6 th ed. New York: NY, McGraw-Hill; 1989. Scaglia F, Carter S, O›Brien WE, Lee B. Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients. Mol Genet Metab. 2004;81:79-85.
DiMagno EP, Lowe JE, Snodgrass PJ, Jones JD. Ornithine transcarbamylase deficiency-A cause of bizarre behavior in a man. N Engl J Med 1986;315:744-7.
Chen YF, Huang YD, Lie HM, Hwu WL. MRI in a case of adult-onset citrullinemia. Neuroradiology 2001;43:845-7.
Kawata A, Suda M, Tanabe H. Adult-onset type II citrullinemia: Clinical pictures before and after liver transplantation. Int Med 1997;36:408-12.
Salerno C, Crifo C. Diagnostic value of urinary orotic acid levels: Applicable separation methods. J Chromatogr B Analyt Technol Biomed Life Sci 2002;781:57-71.
Dhiman RK, Sawhney MS, Chawla YK, Das G, Ram S, Dilawari JB. Efficacy of lactulose in cirrhotic patients with subclinical hepatic encephalopathy. Dig Dis Sci 2000;45:1549-52.
Gillis JC, Brogden RN. Rifaximin. A review of its antibacterial activity, pharmacokinetic properties and therapeutic potential in conditions mediated by gastrointestinal bacteria. Drugs 1995;49:467-84.
Scaglia F, Carter S, O›Brien WE, Lee B. Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients. Mol Genet Metab. 2004;81:79-85.
Enns GM, Berry SA, Berry GT, Rhead WJ, Brusilow SW, Hamosh A. Survival after Treatment with Phenylacetate and Benzoate for Urea-Cycle Disorders. N Engl J Med 2007;356:2282-92.
Maestri NE, Hauser ER, Bartholomew D, Brusilow SW. Prospective treatment of urea cycle disorders. J Pediatr 1991;119:923-8.