https://scholars.lib.ntu.edu.tw/handle/123456789/526100
Title: | Ornithine transcarbamylase deficiency | Authors: | Yeh S.-J. WUH-LIANG HWU Tsai W.-S. Wu T.-J. Tuchman M. Wang T.-R. |
Keywords: | hyperammonemia; ornithine transcarbamylase deficiency | Issue Date: | 1997 | Journal Volume: | 96 | Journal Issue: | 1 | Start page/Pages: | 43-45 | Source: | Journal of the Formosan Medical Association | Abstract: | Two infants, one male and one female, with elevated serum ammonia levels, were shown, based on urine organic acid analysis and DNA studies, to have ornithine transcarbamylase (OTC) deficiency. OTC deficiency is one of the most common urea cycle disorders. Hyperammonemia occurred at 3 days of age in the male infant, and at approximately 7 days of age in the female infant. Administration of sodium benzoate and sodium phenylacetate lowered the serum ammonia level effectively in both cases. Other modalities, including peritoneal dialysis and protein restriction, were also important in the control of the serum ammonia level. The mother of the male infant was shown to be a carrier of the OTC gene mutation by allopurinol loading test. The mutation site of the OTC gene for the female infant was identified, but her mother did not have the mutation. OTC deficiency, an incompletely dominant X-linked disorder, is a severe disease even for females and prompt treatment and precise genetic counseling are mandatory. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-0031047164&partnerID=40&md5=a73cc4f6db35d29b0237f86e125ecf5e https://scholars.lib.ntu.edu.tw/handle/123456789/526100 |
ISSN: | 0929-6646 | SDG/Keyword: | allopurinol; benzoic acid; ornithine carbamoyltransferase; phenylacetate sodium; ucephan; unclassified drug; article; case report; enzyme deficiency; female; gene mutation; human; hyperammonemia; male; newborn; nuclear magnetic resonance imaging; nucleotide sequence; oral drug administration; Female; Humans; Infant, Newborn; Male; Ornithine Carbamoyltransferase |
Appears in Collections: | 醫學系 |
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