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KMID : 1189120100070010087
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대한의학유전학회지
2010 Volume.7 No. 1 p.87 ~ p.90
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A Case with Transient Hyperammonemia of Newborn
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Lee Hee-Kyung
Lee Beom-Hee
Jin Hye-Young
Kim Gu-Hwan
Choi Jin-Ho
Yoo Han-Wook
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Abstract
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Hyperammonemia in the newborn often leads to severe fatal illness associated with hyperammonemic encephalopathy. Transient hyperammonemia in newborns (THAN) is characterized by self-limiting, transient hyperammonemia during the neonatal period. THAN may have favorable long-term outcomes if it is diagnosed early and appropriately managed. However, severe hyperammonemia can develop even in newborns with THAN, which may require emergent management. Here we report a case of THAN with severe hyperammonemia during the neonatal period that was successfully treated with continuous renal replacement therapy and nitrogen-scavenging medications. Our patient went on to develop normally and has not re-experienced a hyperammonemic episode until 9 months of age without the administration of a protein restricted diet or medications.
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KEYWORD
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Hyperammonemia, THAN, Urea cycle disorder
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