Natural history of symptomatic partial ornithine transcarbamylase deficiency
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.
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mRNA-based PRT is a promising alternative for liver transplant, which is currently the only option for treating OTCD.
“mRNA-based PRT is a promising alternative for liver transplant which is currently the only option for treating OTCD.[176]”
From RNA delivery biomaterials for the treatment of genetic and rare diseases (2019) · cites this paper as [176]
Cites
Adaptive Characteristics of Urea Cycle Enzymes in the Rat
SCHIMKE, R. T. (1962) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)93943-8 · Cited by 735 · see citing works
Neurologic Outcome in Children with Inborn Errors of Urea Synthesis
Msall, M. E., Batshaw, M. L., Suss, R. A., Brusilow, S. W., & Mellits, E. D. (1984) · New England Journal of Medicine · doi:10.1056/nejm198406073102304 · Cited by 411 · see citing works
Comparative Biochemistry of Urea Synthesis
Brown, G. W., & Cohen, P. P. (1959) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)69923-5 · Cited by 410 · see citing works
Russell, A., Levin, B., Oberholzer, V. G., & Sinclair, L. (1962) · The Lancet · doi:10.1016/s0140-6736(62)90508-1 · Cited by 325 · see citing works
Treatment of Inborn Errors of Urea Synthesis
Batshaw, M. L., Brusilow, S. W., Waber, L. J., Blom, W., Brubakk, A. M., Burton, B. K., Cann, H. M., Kerr, D. S., Mamunes, P., Matalon, R. K., et al. (1982) · New England Journal of Medicine · doi:10.1056/nejm198206103062303 · Cited by 264 · see citing works
Treatment of Episodic Hyperammonemia in Children with Inborn Errors of Urea Synthesis
Brusilow, S. W., Danney, M. M., Waber, L. J., Batshaw, M. L., Burton, B. K., Levitsky, L., Roth, K. S., McKeethren, C., & Ward, J. C. (1984) · New England Journal of Medicine · doi:10.1056/nejm198406213102503 · Cited by 231 · see citing works
Hyperornithinemia, Hyperammonemia, and Homocitrullinuria
Shih, V. E. (1969) · American journal of diseases of children · doi:10.1001/archpedi.1969.02100030085009 · Cited by 160 · see citing works
Simell, O., Perheentupa, J., Rapola, J., Visakorpi, J. K., & Eskelin, L.-E. (1975) · The American Journal of Medicine · doi:10.1016/0002-9343(75)90358-7 · Cited by 159 · see citing works
Cerebral Dysfunction in Asymptomatic Carriers of Ornithine Transcarbamylase Deficiency
Batshaw, M. L., Roan, Y., Jung, A. L., Rosenberg, L. A., & Brusilow, S. W. (1980) · New England Journal of Medicine · doi:10.1056/nejm198002283020902 · Cited by 129 · see citing works
Rozen, R. R., Fox, J. E., Fenton, W. A., Horwich, A. L., & Rosenberg, L. E. (1985) · Nature · doi:10.1038/313815a0 · Cited by 128 · see citing works
Evidence for X-Linked Dominant Inheritance of Ornithine Transcarbamylase Deficiency
Short, E. M., Conn, H. O., Snodgrass, P. J., Campbell, A. G. M., & Rosenberg, L. E. (1973) · New England Journal of Medicine · doi:10.1056/nejm197301042880102 · Cited by 128 · see citing works
X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase.
Ricciuti, F., GELEHRTER, T. D., & Rosenberg, L. (1976) · PubMed · Cited by 125 · see citing works
Ornithine Transcarbamylase Deficiency
Campbell, A. G. M., Rosenberg, L. E., Snodgrass, P. J., & Nuzum, C. T. (1973) · New England Journal of Medicine · doi:10.1056/nejm197301042880101 · Cited by 125 · see citing works
[Ornithine transcarbamylase deficiency].
Hata, A. (1988) · PubMed · Cited by 125 · see citing works
A COLORIMETRIC DETERMINATION OF OROTIC ACID
Adachi, T., TANIMURA, A., & ASAHINA, M. (1963) · THE JOURNAL OF VITAMINOLOGY · doi:10.5925/jnsv1954.9.217 · Cited by 95 · see citing works
Hyperdibasicaminoaciduria: An Inherited Disorder of Amino Acid Transport[34]
Whelan, D. T., & Scriver, C. R. (1968) · Pediatric Research · doi:10.1203/00006450-196811000-00011 · Cited by 90 · see citing works
Metabolic and Genetic Studies of a Family with Ornithine Transcarbamylase Deficiency
Goldstein, A. S., Hoogenraad, N. J., Johnson, J. D., Fukanaga, K., Swierczewski, E., Cann, H. M., & Sunshine, P. (1974) · Pediatric Research · doi:10.1203/00006450-197401000-00002 · Cited by 87 · see citing works
Ornithine trascarbamylase deficiencies in human males Kinetic and immunochemical classification
Briano, P., François, B., Rabier, D., & Cathelineau, L. (1982) · Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology · doi:10.1016/0167-4838(82)90136-4 · Cited by 67 · see citing works
Ceriotti, G. (1973) · Clinica Chimica Acta · doi:10.1016/0009-8981(73)90065-x · Cited by 66 · see citing works
Kendall, B. E., Kingsley, D. P. E., Leonard, J. V., Lingam, S., & Oberholzer, V. G. (1983) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.46.1.28 · Cited by 61 · see citing works
Heritable urea cycle enzyme deficiency-liver disease in 16 patients
LaBrecque, D. R., Latham, P. S., Riely, C. A., Hsia, Y. E., & Klatskin, G. (1979) · The Journal of Pediatrics · doi:10.1016/s0022-3476(79)80014-1 · Cited by 59 · see citing works
Conditions affecting the colorimetry of orotic acid and orotidine in urine.
Harris, M. L., & Oberholzer, V. G. (1980) · Clinical Chemistry · doi:10.1093/clinchem/26.3.473 · Cited by 59 · see citing works
Brusilow, S. W., Batshaw, M. L., & Waber, L. J. (1982) · Advances in Pediatrics · doi:10.1016/s0065-3101(22)00597-7 · Cited by 44 · see citing works
Carrier detection in ornithine transcarbamylase deficiency
Hokanson, J. T., O’Brien, W. E., Idemoto, J., & Schafer, I. A. (1978) · The Journal of Pediatrics · doi:10.1016/s0022-3476(78)80606-4 · Cited by 40 · see citing works
Lysinuric Protein Intolerance Presenting as Childhood Osteoporosis
Carpenter, T. O., Levy, H. L., Holtrop, M. E., Shih, V. E., & Anast, C. S. (1985) · New England Journal of Medicine · doi:10.1056/nejm198501313120506 · Cited by 40 · see citing works
Orotic Aciduria in Lysinuric Protein Intolerance: Dependence on the Urea Cycle Intermediates
Rajantie, J. (1981) · Pediatric Research · doi:10.1203/00006450-198102000-00006 · Cited by 35 · see citing works
Becroft, D. M. O., Barry, D. M., WEBSTER, D. R., & Simmonds, H. A. (1984) · Journal of Inherited Metabolic Disease · doi:10.1007/bf01805599 · Cited by 34 · see citing works
Evaluation of the management of hepatic encephalopathy
Cohen, M. I., & Litt, I. F. (1972) · The Journal of Pediatrics · doi:10.1016/s0022-3476(72)80146-x · Cited by 33 · see citing works
Reye's syndrome: a clinical review.
Crocker, J. F. S., & Bagnell, P. C. (1981) · PubMed · Cited by 32 · see citing works
Amino acid pattern in Reye syndrome: Comparison with clinically similar entities
Romshe, C. A., Hilty, M. D., McClung, H. J., Kerzner, B., & Reiner, C. B. (1981) · The Journal of Pediatrics · doi:10.1016/s0022-3476(81)80849-9 · Cited by 32 · see citing works
Inborn errors of urea synthesis
Brusilow, S. W. (1985) · Elsevier eBooks · doi:10.1016/b978-0-407-02312-3.50012-0 · Cited by 27 · see citing works
Carrier detection in ornithine transcarbamylase deficiency
Haan, E., Danks, D. M., Grimes, A., & Hoogenraad, N. J. (1980) · Journal of Inherited Metabolic Disease · doi:10.1007/bf01799752 · Cited by 22 · see citing works
Rare Diseases, Common Problems: Recognition and Management
Holtzman, N. A. (1978) · PEDIATRICS · doi:10.1542/peds.62.6.1056 · Cited by 20 · see citing works
Glasgow, A. M., Kraegel, J. H., & Schulman, J. D. (1978) · PEDIATRICS · doi:10.1542/peds.62.1.30 · Cited by 19 · see citing works
SINATRA, F., Yoshida, T., APPLEBAUM, M., Mason, W. H., Hoogenraad, N. J., & Sunshine, P. (1975) · Pediatric Research · doi:10.1203/00006450-197509110-00005 · Cited by 19 · see citing works
803 IDENTIFICATION OF HETEROZYGOSITY FOR ORNITHINE TRANSCARBAMYLASE DEFICIENCY (OTCD)
Brusilow, S. W., & Valle, D. (1985) · Pediatric Research · doi:10.1203/00006450-198504000-00833 · Cited by 9 · see citing works
Glasgow, A. C. A., & Chase, H. P. (1975) · The Lancet · doi:10.1016/s0140-6736(75)91104-6 · Cited by 5 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Urea Cycle Disorders: Diagnosis, Pathophysiology, and Therapy
Brusilow, S. W., & Maestri, N. E. (1996) · Advances in Pediatrics · doi:10.1016/s0065-3101(24)00072-0 · Cited by 355 · see citing works
Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene
Yamaguchi, S., Brailey, L. L., Morizono, H., Bale, A. E., & Tuchman, M. (2006) · Human Mutation · doi:10.1002/humu.20339 · Cited by 268 · see citing works
Long-Term Treatment of Girls with Ornithine Transcarbamylase Deficiency
Maestri, N. E., Brusilow, S. W., Clissold, D. B., & Bassett, S. S. (1996) · New England Journal of Medicine · doi:10.1056/nejm199609193351204 · Cited by 258 · see citing works
Urea cycle defects: Management and outcome
Nassogne, M., Héron, B., Touati, G., Rabier, D., & Saudubray, J. (2005) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-005-0303-7 · Cited by 184 · see citing works
Cyclic Vomiting Syndrome: Evolution in Our Understanding of a Brain-Gut Disorder
Li, B. U. K., & Balint, J. P. (2000) · Advances in Pediatrics · doi:10.1016/s0065-3101(23)00096-8 · Cited by 183 · see citing works
Hyperammonemia in Women with a Mutation at the Ornithine Carbamoyltransferase Locus
Arn, P. H., Hauser, E. R., Thomas, G. H., Herman, G. E., Hess, D., & Brusilow, S. W. (1990) · New England Journal of Medicine · doi:10.1056/nejm199006073222307 · Cited by 180 · see citing works
Seminara, S. B., Achermann, J. C., Genel, M., Jameson, J. L., & Crowley, W. F. (1999) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.84.12.6172 · Cited by 176 · see citing works
Allopurinol-Induced Orotidinuria
Hauser, E. R., Finkelstein, J. E., Valle, D. L., & Brusilow, S. W. (1990) · New England Journal of Medicine · doi:10.1056/nejm199006073222305 · Cited by 120 · see citing works
Non-hepatic hyperammonaemia: an important, potentially reversible cause of encephalopathy
Hawkes, N., Thomas, G. A. O., Jurewicz, A., Williams, O. M., Hillier, C. E. M., McQueen, I. N., & Shortland, G. (2001) · Postgraduate Medical Journal · doi:10.1136/pmj.77.913.717 · Cited by 109 · see citing works
Late-onset ornithine transcarbamylase deficiency in male patients
Finkelstein, J. E., Hauser, E. R., Leonard, C. O., & Brusilow, S. W. (1990) · The Journal of Pediatrics · doi:10.1016/s0022-3476(05)80129-5 · Cited by 107 · see citing works
Oechsner, M., Steen, C., Stürenburg, H. J., & Kohlschütter, A. (1998) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.64.5.680 · Cited by 101 · see citing works
Neurological Effects Associated with Use of the Insect RepellentN, N-Diethyl-m-toluamide (DEET)
Osimitz, T. G., & Murphy, J. V. (1997) · Journal of Toxicology Clinical Toxicology · doi:10.3109/15563659709001224 · Cited by 101 · see citing works
Cognitive outcome in urea cycle disorders
Gropman, A. L., & Batshaw, M. L. (2004) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2003.11.016 · Cited by 100 · see citing works
Urea Cycle Disorders: Clinical Presentation Outside the Newborn Period
Smith, W. E., Kishnani, P. S., Lee, B., Singh, R. H., Rhead, W. J., King, L. S., Smith, M. C. F., & Summar, M. L. (2005) · Critical Care Clinics · doi:10.1016/j.ccc.2005.05.007 · Cited by 90 · see citing works
Gyato, K., Wray, J. A., Huang, Z. J., Yudkoff, M., & Batshaw, M. L. (2003) · Annals of Neurology · doi:10.1002/ana.10794 · Cited by 88 · see citing works
RNA delivery biomaterials for the treatment of genetic and rare diseases
Zhao, W., Hou, X., Vick, O. G., & Dong, Y. (2019) · Biomaterials · doi:10.1016/j.biomaterials.2019.119291 · Cited by 82 · see citing works
Kovacs, K. A., & Gay, J. D. L. (1998) · Medicine · doi:10.1097/00005792-199811000-00005 · Cited by 81 · see citing works
Inborn errors of urea synthesis
Batshaw, M. L. (1994) · Annals of Neurology · doi:10.1002/ana.410350204 · Cited by 81 · see citing works
Cross‐sectional observational study of 208 patients with non‐classical urea cycle disorders
Rüegger, C. M., Lindner, M. S., Ballhausen, D., Baumgartner, M. R., Beblo, S., Das, A. M., Gautschi, M., Glahn, E. M., Grünert, S. C., Hennermann, J. B., et al. (2013) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-013-9624-0 · Cited by 78 · see citing works
Liver transplantation for ornithine transcarbamylase deficiency in a girl
Largillière, C., Houssin, D. P., Gottrand, F., Mathey, C., Checoury, A., Alagille, D., & Farriaux, J. P. (1989) · The Journal of Pediatrics · doi:10.1016/s0022-3476(89)80843-1 · Cited by 72 · see citing works
Burgard, P., Kölker, S., Haege, G., Lindner, M. S., & Hoffmann, G. F. (2015) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-015-9901-1 · Cited by 71 · see citing works
Improved molecular diagnostics for ornithine transcarbamylase deficiency.
Grompe, M., Caskey, C. T., & Fenwick, R. G. (1991) · PubMed · Cited by 70 · see citing works
Heterogeneity of Diagnoses Presenting as Cyclic Vomiting
Li, B. U. K., Murray, R. D., Heitlinger, L. A., Robbins, J. L., & Hayes, J. R. (1998) · PEDIATRICS · doi:10.1542/peds.102.3.583 · Cited by 67 · see citing works
Gropman, A. L., Fricke, S. T., Seltzer, R. R., Hailu, A., Adeyemo, A., Sawyer, A. T., van Meter, J., Gaillard, W. D., McCarter, R., Tuchman, M., et al. (2008) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2008.06.003 · Cited by 62 · see citing works
Legras, A., Labarthe, F., Maillot, F., Garrigue, M. A., Kouatchet, A., & de Baulny, H. O. (2002) · Critical Care Medicine · doi:10.1097/00003246-200201000-00035 · Cited by 62 · see citing works
Lee, B., Yu, H., Jahoor, F., O’Brien, W. E., Beaudet, A. L., & Reeds, P. J. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.140082197 · Cited by 60 · see citing works
Felig, D. M., Brusilow, S. W., & Boyer, J. L. (1995) · Gastroenterology · doi:10.1016/0016-5085(95)90295-3 · Cited by 60 · see citing works
Campeau, P. M., Pivalizza, P. J., Miller, G., McBride, K. L., Karpen, S. J., Goss, J. A., & Lee, B. (2010) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2010.02.012 · Cited by 58 · see citing works
Mutations and polymorphisms in the human ornithine transcarbamylase gene
Tuchman, M. (1993) · Human Mutation · doi:10.1002/humu.1380020304 · Cited by 57 · see citing works
Kiwaki, K., Kanegae, Y., Saito, I., Komaki, S., Nakamura, K., Miyazaki, J., Endo, F., & Matsuda, I. (1996) · Human Gene Therapy · doi:10.1089/hum.1996.7.7-821 · Cited by 56 · see citing works
Ornithine transcarbamylase deficiency
Nyhan, W., Hoffmann, G. F., Barshop, B., & Al-Aqeel, A. (2011) · CRC Press eBooks · doi:10.1201/b13564-28 · Cited by 55 · see citing works
Matsuda, I., Nagata, N., Matsuura, T., Oyanagi, K., Tada, K., Narisawa, K., Kitagawa, T., Sakiyama, T., Yamashita, F., & Yoshino, M. (1991) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320380119 · Cited by 54 · see citing works
Hyperammonemia, Bane of the Brain
Cohn, R. M., & Roth, K. S. (2004) · Clinical Pediatrics · doi:10.1177/000992280404300801 · Cited by 53 · see citing works
Inborn errors of metabolism: a clinical overview
Martins, A. M. (1999) · Sao Paulo Medical Journal · doi:10.1590/s1516-31801999000600006 · Cited by 46 · see citing works
Burton, B. K. (2000) · Clinics in Liver Disease · doi:10.1016/s1089-3261(05)70143-4 · Cited by 45 · see citing works
Cavicchi, C., Donati, M. A., Parini, R., Rigoldi, M., Bernardi, M., Orfei, F., Silveri, N. G., Colasante, A., Funghini, S., Catarzi, S., et al. (2014) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-014-0105-9 · Cited by 44 · see citing works
In vivo nitrogen metabolism in ornithine transcarbamylase deficiency.
Yudkoff, M., Daikhin, Y., Nissim, I., Jawad, A. F., Wilson, J. M., & Batshaw, M. L. (1996) · Journal of Clinical Investigation · doi:10.1172/jci119023 · Cited by 44 · see citing works
Neuropsychological attributes of urea cycle disorders: A systematic review of the literature
Waisbren, S. E., Stefanatos, A. K., Kok, T. M. Y., & Hişmi, B. Ö. (2019) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12146 · Cited by 43 · see citing works
Genetic and metabolic liver disease
Thompson, R. J., Portmann, B. C., & Roberts, E. A. (2011) · Elsevier eBooks · doi:10.1016/b978-0-7020-3398-8.00004-0 · Cited by 43 · see citing works
Pridmore, C., Clarke, J. T. R., & Blasér, S. (1995) · Journal of Child Neurology · doi:10.1177/088307389501000506 · Cited by 41 · see citing works
Schimanski, U., Krieger, D. W., Horn, M., Stremmel, W., Wermuth, B., & Lorenz Theilmann, I. (1996) · Hepatology · doi:10.1002/hep.510240618 · Cited by 40 · see citing works
Bogdanovic, M. D. (2000) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.69.6.813 · Cited by 38 · see citing works
A pathogenetic classification of hereditary ataxias: Is the time ripe?
Michele, G. D., Coppola, G., Cocozza, S., & Filla, A. (2004) · Journal of Neurology · doi:10.1007/s00415-004-0484-2 · Cited by 37 · see citing works
PETERSON, D. (2003) · Obstetrics and Gynecology · doi:10.1016/s0029-7844(03)00165-0 · Cited by 37 · see citing works
Gaspari, R., Arcangeli, A., Mensi, S., Wismayer, D. S., Tartaglione, T., Antuzzi, D., Conti, G., & Proietti, R. (2003) · Annals of Emergency Medicine · doi:10.1067/mem.2003.6 · Cited by 35 · see citing works
Ornithine Transcarbamylase Deficiency: Adult Onset of Severe Symptoms
Gilchrist, J. M., & Coleman, R. (1987) · Annals of Internal Medicine · doi:10.7326/0003-4819-106-4-556 · Cited by 35 · see citing works
Scaglia, F., Zheng, Q., O’Brien, W. E., Henry, J. F., Rosenberger, J. N., Reeds, P. J., & Lee, B. (2002) · PEDIATRICS · doi:10.1542/peds.109.1.150 · Cited by 33 · see citing works
Valproate as a Cause of Hyperammonemia in Heterozygotes With ornithine-transcarbamylase Deficiency
Leão, M. (1995) · Neurology · doi:10.1212/wnl.45.3.593 · Cited by 33 · see citing works
Restoration of nitrogen homeostasis in a man with ornithine transcarbamylase deficiency
Brusilow, S. W., & Finkelstien, J. (1993) · Metabolism · doi:10.1016/0026-0495(93)90135-b · Cited by 32 · see citing works
Ornithine Transcarbamylase Deficiency Unmasked Because of Gastrointestinal Bleeding
Trivedi, M., Zafar, S., Spalding, M. J., & Jonnalagadda, S. S. (2001) · Journal of Clinical Gastroenterology · doi:10.1097/00004836-200104000-00013 · Cited by 32 · see citing works
Alport syndrome, basement membranes and collagen
Kashtan, C. E., Kleppel, M. M., Butkowski, R. J., Michael, A. F., & Fish, A. J. (1990) · Pediatric Nephrology · doi:10.1007/bf00869840 · Cited by 32 · see citing works
Arens, R., Gozal, D., Williams, J. C., Ward, S. L. D., & Keens, T. G. (1993) · The Journal of Pediatrics · doi:10.1016/s0022-3476(05)81747-0 · Cited by 29 · see citing works
Morsy, M., Zhao, J. Z., Ngo, T. T., Warman, A. W., O’Brien, W. E., Graham, F. L., & Caskey, C. T. (1996) · Journal of Clinical Investigation · doi:10.1172/jci118482 · Cited by 29 · see citing works
Disorders of the Urea Cycle and Related Enzymes
Wijburg, F. A., & Nassogne, M. (2011) · Springer eBooks · doi:10.1007/978-3-642-15720-2_20 · Cited by 27 · see citing works
Neurologic syndromes in hyperammonemic disorders
Breningstall, G. N. (1986) · Pediatric Neurology · doi:10.1016/0887-8994(86)90016-0 · Cited by 24 · see citing works
van Diggelen, O. P., Zaremba, J., Wang, H., Keulemans, J. L. M., Boer, A. M., Reuser, A. J. J., Ausems, M. G. E. M., Smeitink, J. A. M., Kowalczyk, J., Pronicka, E., et al. (1996) · Clinical Genetics · doi:10.1111/j.1399-0004.1996.tb02380.x · Cited by 24 · see citing works
Spence, J. E., Maddalena, A., O’Brien, W. E., Fernbach, S. D., Batshaw, M. L., Leonard, C. O., & Beaudet, A. L. (1989) · The Journal of Pediatrics · doi:10.1016/s0022-3476(89)80697-3 · Cited by 24 · see citing works
Psychiatric adult-onset of urea cycle disorders: A case-series
Bigot, A., Brunault, P., Lavigne, C., Feillet, F., Odent, S., Kaphan, E., Thauvin‐Robinet, C., Seguin, V. L., Broué, P., Tchan, M. C., et al. (2017) · Molecular Genetics and Metabolism Reports · doi:10.1016/j.ymgmr.2017.07.001 · Cited by 23 · see citing works
Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency
Pelet, A., Rötig, A., Bona�ti-Pelli�, C., Rabier, D., Cormier‐Daire, V., Toumas, E., Hentzen, D., Saudubray, J., & Münnich, A. (1990) · Human Genetics · doi:10.1007/bf00208934 · Cited by 23 · see citing works
Central pontine myelinolysis as a complication of partial ornithine carbamoyl transferase deficiency
Mattson, L. R., Lindor, N. M., Goldman, D. H., Goodwin, J. T., Groover, R. V., & Vockley, J. E. (1995) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320600308 · Cited by 22 · see citing works
Ramanathan, M., Uppalapu, S., & Patel, N. M. (2016) · American Journal of Transplantation · doi:10.1111/ajt.14174 · Cited by 19 · see citing works
Hyperammonemia in a Woman with Late-onset Ornithine Transcarbamylase Deficiency
Koya, Y., Shibata, M., Senju, M., Honma, Y., Hiura, M., Ishii, M., Matsumoto, S., & Harada, M. (2018) · Internal Medicine · doi:10.2169/internalmedicine.1851-18 · Cited by 18 · see citing works
Rapidly fatal hyperammonemic coma in adults. Urea cycle enzyme deficiency.
Wilson, B. E., Hobbs, W. N., Newmark, J., & Farrow, S. J. (1994) · PubMed Central · Cited by 17 · see citing works
An Unusual Presentation of Medium-Chain Acyl Coenzyme A Dehydrogenase Deficiency
Marsden, D. (1992) · Archives of Pediatrics and Adolescent Medicine · doi:10.1001/archpedi.1992.02160240069023 · Cited by 16 · see citing works
Spiegel, R., Spada, A. L., Kress, W., Fischbeck, K., & Schmid, W. (1996) · Human Mutation · doi:10.1002/(sici)1098-1004(1996)8:1 · Cited by 23 · see citing works
A probable sex difference in mutation rates in ornithine transcarbamylase deficiency
Bona�ti-Pelli�, C., Pelet, A., Ogier, H., Nelson, J.-R., Largilli�re, C., Berthelot, J., Saudubray, J., & Münnich, A. (1990) · Human Genetics · doi:10.1007/bf00208933 · Cited by 16 · see citing works
Coma in a young anorexic woman
Blans, M. J., Vos, P. E., Faber, H. J., & Boers, G. H. J. (2001) · The Lancet · doi:10.1016/s0140-6736(00)05067-4 · Cited by 15 · see citing works
Developmental and Inherited Liver Disease
Quaglia, A., Roberts, E. A., & Torbenson, M. S. (2017) · Elsevier eBooks · doi:10.1016/b978-0-7020-6697-9.00003-0 · Cited by 14 · see citing works
Molecular detection and correction of ornithine transcarbamylase deficiency
Grompe, M., Jones, S. N., & Caskey, C. T. (1990) · Trends in Genetics · doi:10.1016/0168-9525(90)90255-5 · Cited by 13 · see citing works
Late-onset ornithine transcarbamylase deficiency: a potentially fatal yet treatable cause of coma
Crosbie, D., Sugumar, H., Simpson, M. A., Walker, S. P., Dewey, H. M., & Reade, M. C. (2009) · Critical Care and Resuscitation · doi:10.1016/s1441-2772(23)01561-2 · Cited by 13 · see citing works
Nonepileptic Paroxysmal Events in Childhood
Golden, G. S. (1992) · Pediatric Clinics of North America · doi:10.1016/s0031-3955(16)38372-9 · Cited by 12 · see citing works
Prenatal monitoring of ornithine transcarbamoylase deficiency in two families by DNA analysis
Matsuura, T., Hoshide, R., Fukushima, M., Sakiyama, T., Ōwada, M., & Matsuda, I. (1992) · Journal of Inherited Metabolic Disease · doi:10.1007/bf00711312 · Cited by 12 · see citing works
Calvas, P., Ségues, B., Rozet, J., Rabier, D., Bonnefond, J., & Münnich, A. (1998) · Human Mutation · doi:10.1002/humu.1380110128 · Cited by 11 · see citing works
Hoshide, R., Matsuura, T., Komaki, S., Koike, E., Ueno, I., & Matsuda, I. (1993) · Journal of Inherited Metabolic Disease · doi:10.1007/bf00714278 · Cited by 11 · see citing works
Fatal hyperammonemic coma caused by ornithine transcarbamylase deficiency in a woman
Perpoint, T., Argaud, L., Blanc, Q., & Robert, D. (2001) · Intensive Care Medicine · doi:10.1007/s00134-001-1148-7 · Cited by 11 · see citing works
Psychiatric manifestations in girl with ornithine transcarbamylase deficiency
Largillière, C. (1995) · The Lancet · doi:10.1016/s0140-6736(95)90843-9 · Cited by 10 · see citing works
Ornithine Transcarbamylase Deficiency: A Model for Gene Therapy
Morsy, M., & Caskey, C. T. (1994) · Advances in experimental medicine and biology · doi:10.1007/978-1-4615-1989-8_15 · Cited by 10 · see citing works
Ornithine transcarbamylase deficiency and pregnancy: A case series and review of recommendations
Pinho, G., Ross, G., Krishnamoorthy, K., Kresge, C., Shih, L. Y., Apuzzio, J. J., & Williams, S. F. (2022) · Case Reports in Women s Health · doi:10.1016/j.crwh.2022.e00390 · Cited by 8 · see citing works
Neurotransmitter alterations in congenital hyperammonemia
Robinson, M. B., & Batshaw, M. L. (1995) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.1410010308 · Cited by 8 · see citing works
Kawagishi, N., Satoh, K., Enomoto, Y., Akamatsu, Y., Sekiguchi, S., Satoh, A., Fujimori, K., Takasago, Y., Ito, T., Ohura, T., et al. (2005) · Surgery Today · doi:10.1007/s00595-005-3071-y · Cited by 8 · see citing works
Nonhepatic Hyperammonemia With Septic Shock: Case and Review of Literature
Dalsania, N. R., Kundu, S., Patti, R. K., Somal, N., & Kupfer, Y. Y. (2022) · Journal of Investigative Medicine High Impact Case Reports · doi:10.1177/23247096221101855 · Cited by 7 · see citing works
Valík, D., Šedová, Z., Štarha, J., Zeman, J., Hruba, E., & Dvořáková, L. (2004) · Acta Paediatrica · doi:10.1111/j.1651-2227.2004.tb03002.x · Cited by 7 · see citing works
Li, B. K., & Sunku, B. K. (2010) · Elsevier eBooks · doi:10.1016/b978-1-4377-0774-8.10009-0 · Cited by 7 · see citing works
MacKenzie, A., MacLeod, H. L., Heick, H. M. C., & Korneluk, R. G. (1989) · The Journal of Pediatrics · doi:10.1016/s0022-3476(89)80294-x · Cited by 7 · see citing works
Schwarz, S., Schwab, S., & Hoffmann, G. F. (1999) · Der Nervenarzt · doi:10.1007/s001150050410 · Cited by 7 · see citing works
X-chromosome inactivation in the liver of female heterozygous OTC-deficient Sparse-furash mice
Mrozek, J. D., Holzknecht, R. A., Butkowski, R. J., Mauer, S. M., & Tuchman, M. (1991) · Biochemical Medicine and Metabolic Biology · doi:10.1016/0885-4505(91)90038-m · Cited by 6 · see citing works
Developmental and Psychiatric Presentations of Inherited Metabolic Disorders
Turnacioglu, S. O., & Gropman, A. L. (2013) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2012.08.012 · Cited by 6 · see citing works
Movement Disorders and Inherited Metabolic Disorders
(2020) · Cambridge University Press eBooks · doi:10.1017/9781108556767 · Cited by 6 · see citing works
Prenatal Counseling in Heterozygotes for Ornithine Transcarbamylase Deficiency
Fries, M. H., Kuller, J. A., Jurecki, E. R., & Packman, S. (1994) · Clinical Pediatrics · doi:10.1177/000992289403300903 · Cited by 6 · see citing works
Severe Acute Motor Exacerbations ( SAME ) across Metabolic, Developmental and Genetic Disorders
Couto, B., Galosi, S., Steel, D., Kurian, M. A., Friedman, J., Gorodetsky, C., & Lang, A. E. (2024) · Movement Disorders · doi:10.1002/mds.29905 · Cited by 5 · see citing works
Developmental and Inherited Liver Disease
Quaglia, A., Roberts, E. A., & Torbenson, M. S. (2023) · Elsevier eBooks · doi:10.1016/b978-0-7020-8228-3.00003-x · Cited by 5 · see citing works
A Urea Cycle Defect Presenting as Acute Cerebellar Ataxia in a 3-Year-Old Girl
Keller, C., Shapira, S. K., & Clark, G. (1998) · Journal of Child Neurology · doi:10.1177/088307389801300211 · Cited by 5 · see citing works
Diseases of Metabolism (Disorders of Amino Acid Metabolism)
Kazmierczak, S. C. (1993) · Analytical Chemistry · doi:10.1021/ac00060a606 · Cited by 5 · see citing works
Hyperammoniemic coma in an adolescent girl: An unusual case of ornithine transcarbamylase deficiency
Perini, M., Zarcone, D., & Corbetta, C. (1993) · Neurological Sciences · doi:10.1007/bf02339177 · Cited by 5 · see citing works
Hyperammonemic Encephalopathy Precipitated by a Bleeding Peptic Ulcer
Gaur, S., & Shukla, V. (2003) · Southern Medical Journal · doi:10.1097/01.smj.0000049848.49028.22 · Cited by 5 · see citing works
Maternal genetic diseases: potential concerns for mother and baby
Stone, J., & Reed, D. (2019) · Human Genetics · doi:10.1007/s00439-019-02086-6 · Cited by 4 · see citing works
Schoenig, G. P., & Osimitz, T. G. (2001) · Elsevier eBooks · doi:10.1016/b978-012426260-7.50066-5 · Cited by 4 · see citing works
Inborn Defects of the Mitochondrial Portion of the Urea Cycle
Colombo, J. P., Bachmann, C., & SCHRÄMMLI, A. (1986) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.1986.tb46551.x · Cited by 4 · see citing works
Intermittent hyperammonemic encephalopathy in a child with ornithine transcarbamylase deficiency
Gulati, S., Menon, S. C., Kabra, M., & Kalra, V. (2004) · The Indian Journal of Pediatrics · doi:10.1007/bf02724127 · Cited by 4 · see citing works
Management of Inherited Disorders of Ureagenesis
Tuchman, M., & Batshaw, M. L. (2002) · The Endocrinologist · doi:10.1097/00019616-200203000-00008 · Cited by 4 · see citing works
- Authors
- Rowe, P. C., Newman, S. L., & Brusilow, S. W.
- Affiliations
- Johns Hopkins University (US)
- ORCID
- Rowe, Peter C.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 1986-02-27
- Volume
- 314
- Issue
- 9
- Pages
- 541-547
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2314119136
- Cited by
- 135
- References
- 37
- Citations by year
- 2025: 2 · 2024: 2 · 2023: 1 · 2022: 3 · 2020: 2 · 2019: 4 · 2018: 1 · 2017: 2 · 2016: 2 · 2015: 3 · 2014: 2 · 2013: 2 · 2012: 1
- FWCI
- 2.75
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Center for Research Resources (RR 0052)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD11134)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Amino Acid Enzymes and Metabolism
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Neonatal Health and Biochemistry
- Keywords
- ornithine transcarbamylase deficiency, female heterozygotes, natural history (disease), differential diagnosis, developmental delay, seizures, coma, early diagnosis, neurological deficit
- MeSH terms
- Amino Acid Metabolism, Inborn Errors, Ammonia, Ataxia, Child, Preschool, Coma, Diagnosis, Differential, Dietary Proteins, Female, Food Preferences, Growth Disorders, Humans, Infant, Infant, Newborn, Irritable Mood, Orotic Acid, Phenotype, Seizures, Sleep Stages, Vomiting, Ornithine Carbamoyltransferase Deficiency Disease
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