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  • 标题:A case of severe transient hyperammonemia in a newborn
  • 本地全文:下载
  • 作者:Hwang, Min Woo ; Yu, Seung Taek ; Oh, Yeon Kyun
  • 期刊名称:Korean Journal of Pediatrics
  • 印刷版ISSN:1738-1061
  • 出版年度:2010
  • 卷号:53
  • 期号:4
  • 页码:598-602
  • DOI:10.3345/kjp.2010.53.4.598
  • 语种:English
  • 出版社:The Korean Pediatric Society
  • 摘要:

    Transient hyperammonemia in a newborn is an overwhelming disease manifested by hyperammonemic coma. The majority of affected newborns are premature and have mild respiratory syndrome. The diagnosis may be difficult to determine. This metabolic disorder is primarily characterized by severe hyperammonemia in the postnatal period, coma, absence of abnormal organic aciduria and normal activity of the enzymes of the urea cycle. Hyperammonemic coma may develop within 2-3 days of life, although its etiology is unknown. Laboratory studies reveal marked hyperammonemia (>4,000 µmol/L). The degree of neurologic impairment and developmental delay in this disorder depends on the duration of hyperammonemic coma. Moreover, the infant may succumb to the disease if treatment is not started immediately and continued vigorously. Hyperammonemic coma as a medical emergency requires dialysis therapy. Here, we report a case of severe transient hyperammonemia in a preterm infant (35 week of gestation) presented with respiratory distress, seizure, and deep coma within 48 hours and required ventilatory assistance and marked elevated plasma ammonia levels. He survived with aggressive therapy including peritoneal dialysis, and was followed 2 years later without sequelae.

  • 关键词:Transient hyperammonemia; Hyperammonemic coma; Newborn
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