FREE NEJM E-TOC    HOME   |   SUBSCRIBE   |   CURRENT ISSUE   |   PAST ISSUES   |   COLLECTIONS   |   Search Term  Advanced Search

Sign in | Get NEJM's E-Mail Table of Contents — Free | Subscribe

Previous Volume 314:541-547 February 27, 1986 Number 9 Next

	Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited PubMed Citation

Abstract

We reviewed the natural history and differential diagnosis of ornithine transcarbamylase deficiency (an X-linked inborn error of urea synthesis) in 13 symptomatic female heterozygotes. The patients presented as early as the first week of life or as late as the sixth year. The most common symptoms before diagnosis were nonspecific: episodic extreme irritability (100 percent), episodic vomiting and lethargy (100 percent), protein avoidance (92 percent), ataxia (77 percent), Stage II coma (46 percent), delayed physical growth (38 percent), developmental delay (38 percent), and seizures (23 percent). Including the proband, 42 percent of the female members of the 13 families studied had symptoms. The median interval between the onset of major symptoms (vomiting and lethargy, seizures, and coma) and diagnosis was 16 months (range, 1 to 142). Five patients had IQ scores below 70 at the time of diagnosis. We suggest that careful evaluation of the family history, the dietary history, the episodic nature of the nonspecific symptoms, the response of these symptoms to the withdrawal of protein, and their frequent onset at the time of weaning from breast milk will permit early diagnosis and might thereby reduce the risk of death or neurologic impairment in female patients with partial ornithine transcarbamylase deficiency.

This article has been cited by other articles:

• Cohn, R. M., Roth, K. S. (2004). Hyperammonemia, Bane of the Brain. CLIN PEDIATR 43: 683-689 [Abstract]  
• Hawkes, N D, Thomas, G A O, Jurewicz, A, Williams, O M, Hillier, C E M, McQueen, I N F, Shortland, G (2001). Non-hepatic hyperammonaemia: an important, potentially reversible cause of encephalopathy. Postgrad. Med. J. 77: 717-722 [Abstract] [Full Text]  
• Bogdanovic, M D, Kidd, D, Briddon, A, Duncan, J S, Land, J M (2000). Late onset heterozygous ornithine transcarbamylase deficiency mimicking complex partial status epilepticus. J. Neurol. Neurosurg. Psychiatry 69: 813-815 [Abstract] [Full Text]  
• (1999). X-Linked Adrenal Hypoplasia Congenita: A Mutation in DAX1Expands the Phenotypic Spectrum in Males and Females. J. Clin. Endocrinol. Metab. 84: 4501-4509 [Abstract] [Full Text]  
• Li, B U. K., Murray, R. D., Heitlinger, L. A., Robbins, J. L., Hayes, J. R. (1998). Heterogeneity of Diagnoses Presenting as Cyclic Vomiting. Pediatrics 102: 583-587 [Abstract] [Full Text]  
• Oechsner, M, Steen, C, Sturenburg, H J, Kohlschutter, A (1998). Hyperammonaemic encephalopathy after initiation of valproate therapy in unrecognised ornithine transcarbamylase deficiency. J. Neurol. Neurosurg. Psychiatry 64: 680-682 [Abstract] [Full Text]  
• Keller, C., Shapira, S. K., Clark, G. D. (1998). A Urea Cycle Defect Presenting as Acute Cerebellar Ataxia in a 3-Year-Old Girl. J Child Neurol 13: 93-95  
• Maestri, N. E., Brusilow, S. W., Clissold, D. B., Bassett, S. S. (1996). Long-Term Treatment of Girls with Ornithine Transcarbamylase Deficiency. NEJM 335: 855-860 [Abstract] [Full Text]  
• Pridmore, C. L., Clarke, J. T.R., Blaser, S. (1995). Ornithine Transcarbamylase Deficiency in Females: An Often Overlooked Cause of Treatable Encephalopathy. J Child Neurol 10: 369-374 [Abstract]  
• Fries, M. H., Kuller, J. A., Jurecki, E., Packman, S. (1994). Prenatal Counseling in Heterozygotes for Ornithine Transcarbamylase Deficiency. CLIN PEDIATR 33: 525-529 [Abstract]  
• Marsden, D., Sege-Petersen, K., Nyhan, W. L., Roeschinger, W., Sweetman, L. (1992). An Unusual Presentation of Medium-Chain Acyl Coenzyme A Dehydrogenase Deficiency. Arch Pediatr Adolesc Med 146: 1459-1462 [Abstract]  
• Rowe, P. C., Valle, D., Brusilow, S. W. (1988). Inborn Errors of Metabolism in Children Referred With Reye's Syndrome: A Changing Pattern. JAMA 260: 3167-3170 [Abstract]  
• GILCHRIST, J. M., COLEMAN, R. A. (1987). Ornithine Transcarbamylase Deficiency: Adult Onset of Severe Symptoms. ANN INTERN MED 106: 556-558 [Abstract]  
• Lee, B., Yu, H., Jahoor, F., O'Brien, W., Beaudet, A. L., Reeds, P. (2000). In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle. Proc. Natl. Acad. Sci. USA 97: 8021-8026 [Abstract] [Full Text]