Prospective prevention of neonatal hyperammonaemia in argininosuccinic acidura by arginine therapy
dc.contributor.author | Donn, Steven M. | en_US |
dc.contributor.author | Thoene, Jess G. | en_US |
dc.date.accessioned | 2006-09-08T20:24:31Z | |
dc.date.available | 2006-09-08T20:24:31Z | |
dc.date.issued | 1985-03 | en_US |
dc.identifier.citation | Donn, S. M.; Thoene, J. G.; (1985). "Prospective prevention of neonatal hyperammonaemia in argininosuccinic acidura by arginine therapy." Journal of Inherited Metabolic Disease 8(1): 18-20. <http://hdl.handle.net/2027.42/42501> | en_US |
dc.identifier.issn | 0141-8955 | en_US |
dc.identifier.issn | 1573-2665 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/42501 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=3921755&dopt=citation | en_US |
dc.description.abstract | Argininosuccinic aciduria, due to deficiency of argininosuccinic acid lyase, is generally associated with severe neonatal hyperammonaemia and its neurological sequelae. The cases of two siblings with this autosomal recessive disorder are presented. Both infants were preterm and delivered by Caesarean section for maternal pre-eclampsia. The first infant was not diagnosed until after the development of severe hyperammonaemia and, despite adequate treatment with haemodialysis and arginine infusion, remained comatose for a prolonged period. At 20 months she has profound developmental delays and intellectual impairment. The second infant, whose diagnosis was made antenatally by amniotic fluid analysis, was treated with arginine infusion beginning at 32 h of life and never developed hyperammonaemia. We conclude that early recognition and prompt institution of arginine therapy is an effective regimen for the prevention of neonatal hyperammonaemia in argininosuccinic aciduria. | en_US |
dc.format.extent | 380457 bytes | |
dc.format.extent | 3115 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Kluwer Academic Publishers; SSIEM and MTP Press Limited ; Springer Science+Business Media | en_US |
dc.subject.other | Medicine & Public Health | en_US |
dc.subject.other | Human Genetics | en_US |
dc.subject.other | Internal Medicine | en_US |
dc.subject.other | Metabolic Diseases | en_US |
dc.subject.other | Pediatrics | en_US |
dc.subject.other | Biochemistry, General | en_US |
dc.title | Prospective prevention of neonatal hyperammonaemia in argininosuccinic acidura by arginine therapy | en_US |
dc.type | Article | en_US |
dc.subject.hlbsecondlevel | Kinesiology and Sports | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Pediatrics and Communicable Diseases, Section of Newborn Services, and Section of Metabolic Disease, University of Michigan Hospitals, Ann Arbor, Michigan, USA; L3023 Women's Hospital, Box 007, 48109-0010, Ann Arbor, MI, USA | en_US |
dc.contributor.affiliationum | Department of Pediatrics and Communicable Diseases, Section of Newborn Services, and Section of Metabolic Disease, University of Michigan Hospitals, Ann Arbor, Michigan, USA | en_US |
dc.contributor.affiliationumcampus | Ann Arbor | en_US |
dc.identifier.pmid | 3921755 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/42501/1/10545_2005_Article_BF01805478.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1007/BF01805478 | en_US |
dc.identifier.source | Journal of Inherited Metabolic Disease | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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