The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia How to cite this article: Dimmock DP, Trapane P, Feigenbaum A, Keegan CE, Cederbaum S, Gibson J, Gambello MJ, Vaux K, Ward P, Rice GM, Wolff JA, O'Brien WE, Fang P. 2008. The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia. Am J Med Genet Part A.
dc.contributor.author | Dimmock, David P. | en_US |
dc.contributor.author | Trapane, Pamela | en_US |
dc.contributor.author | Feigenbaum, Annette | en_US |
dc.contributor.author | Keegan, Catherine E. | en_US |
dc.contributor.author | Cederbaum, Stephen | en_US |
dc.contributor.author | Gibson, James | en_US |
dc.contributor.author | Gambello, Michael J. | en_US |
dc.contributor.author | Vaux, Keith | en_US |
dc.contributor.author | Ward, Patricia | en_US |
dc.contributor.author | Rice, Gregory M. | en_US |
dc.contributor.author | Wolff, Jon A. | en_US |
dc.contributor.author | O'Brien, William E. | en_US |
dc.contributor.author | Fang, Ping | en_US |
dc.date.accessioned | 2008-12-01T20:59:35Z | |
dc.date.available | 2010-01-05T16:59:13Z | en_US |
dc.date.issued | 2008-11-15 | en_US |
dc.identifier.citation | Dimmock, David P.; Trapane, Pamela; Feigenbaum, Annette; Keegan, Catherine E.; Cederbaum, Stephen; Gibson, James; Gambello, Michael J.; Vaux, Keith; Ward, Patricia; Rice, Gregory M.; Wolff, Jon A.; O'Brien, William E.; Fang, Ping (2008). "The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia How to cite this article: Dimmock DP, Trapane P, Feigenbaum A, Keegan CE, Cederbaum S, Gibson J, Gambello MJ, Vaux K, Ward P, Rice GM, Wolff JA, O'Brien WE, Fang P. 2008. The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia. Am J Med Genet Part A. ." American Journal of Medical Genetics Part A 146A(22): 2885-2890. <http://hdl.handle.net/2027.42/61313> | en_US |
dc.identifier.issn | 1552-4825 | en_US |
dc.identifier.issn | 1552-4833 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/61313 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=18925679&dopt=citation | en_US |
dc.description.abstract | Expanded newborn screening detects patients with modest elevations in citrulline; however it is currently unclear how to treat these patients and how to counsel their parents. In order to begin to address these issues, we compared the clinical, biochemical, and molecular features of 10 patients with mildly elevated citrulline levels. Three patients presented with clinical illness whereas seven came to attention as a result of expanded newborn screening. One patient presented during pregnancy and responded promptly to IV sodium phenylacetate/sodium benzoate and arginine therapy with no long-term adverse effects on mother or fetus. Two children presented with neurocognitive dysfunction, one of these responded dramatically to dietary protein reduction. ASS enzyme activity was not deficient in all patients with biallelic mutations suggesting this test cannot exclude the ASS1 locus in patients with mildly elevated plasma citrulline. Conversely, all symptomatic patients who were tested had deficient activity. We describe four unreported mutations (p.Y291S, p.R272H, p.F72L, and p.L88I), as well as the common p.W179R mutation. In silico algorithms were inconsistent in predicting the pathogenicity of mutations. The cognitive benefit in one patient of protein restriction and the lack of adverse outcome in seven others restricted from birth, suggest a role for protein restriction and continued monitoring to prevent neurocognitive dysfunction. © 2008 Wiley-Liss, Inc. | en_US |
dc.format.extent | 70610 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.publisher | Wiley Subscription Services, Inc., A Wiley Company | en_US |
dc.subject.other | Life and Medical Sciences | en_US |
dc.subject.other | Genetics | en_US |
dc.title | The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia How to cite this article: Dimmock DP, Trapane P, Feigenbaum A, Keegan CE, Cederbaum S, Gibson J, Gambello MJ, Vaux K, Ward P, Rice GM, Wolff JA, O'Brien WE, Fang P. 2008. The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia. Am J Med Genet Part A. | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Pediatrics, Division of Genetics, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationother | Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas ; Genetics Clinic, Medical College of Wisconsin, 9000 West Wisconsin Avenue, Milwaukee, WI 53226. | en_US |
dc.contributor.affiliationother | Genetics Center, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin | en_US |
dc.contributor.affiliationother | Division of Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada | en_US |
dc.contributor.affiliationother | Deptarments of Psychiatry, Pediatrics and Human Genetics, UCLA, Los Angeles, California | en_US |
dc.contributor.affiliationother | Dell Children's Medical Center of Central Texas, Austin, Texas | en_US |
dc.contributor.affiliationother | The University of Texas Medical School at Houston, Houston, Texas | en_US |
dc.contributor.affiliationother | Department of Pediatrics, University of California San Diego, San Diego, California | en_US |
dc.contributor.affiliationother | Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas | en_US |
dc.contributor.affiliationother | Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison | en_US |
dc.contributor.affiliationother | Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison | en_US |
dc.contributor.affiliationother | Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas | en_US |
dc.contributor.affiliationother | Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas | en_US |
dc.identifier.pmid | 18925679 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/61313/1/32527_ftp.pdf | |
dc.identifier.doi | http://dx.doi.org/10.1002/ajmg.a.32527 | en_US |
dc.identifier.source | American Journal of Medical Genetics Part A | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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