• Journal of Genetic Medicine
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• v.7 no.1
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• pp.87-90
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• 2010

Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea 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.

• Clinical and Experimental Pediatrics
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• v.53 no.4
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• pp.598-602
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• 2010

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 (>$4,000{\mu}mol/L$). 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.

• Journal of The Korean Society of Clinical Toxicology
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• v.14 no.2
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• pp.136-143
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• 2016

Purpose: In patients with altered mentality caused by drugs or unknown causes, ammonia is checked to facilitate differential diagnosis or diagnose hepatic coma. This helps early prevention and treatment of brain damage due to hyperammonemia. This study was conducted to evaluate clinical characteristics of intoxicated adult patients with hyperammonemia. Methods: We evaluated 95 patients with hyperammonemia among intoxicated patients above the age of 15 who visited our ED from January 2013 to December 2015. We analyzed the demographic characteristics and type of poisoning substance, reason for ingestion, toxicological characteristics such as elapsed time from ingestion to hospital visit, lab, clinical progression and complications. Data were evaluated using the student's t test or Mann-Whitney U test for continuous variables, and Chi-square test and Fisher's exact test for frequency analysis of categorical variables. Results: When compared to healthy individuals, patients with hyperammonemia showed statistical significance on their SOFA score (p=0.016) and poison severity score (p<0.001). Additionally, patients with hyperammonemia showed significantly different initial serum AST level (p=0.012) and maximum serum AST level during the hospital stay (p=0.026) when compared to healthy individuals. Moreover, individuals with sustained hyperammonemia compared to transient hyperammonemia showed clinically significant SOFA scores (p<0.001), poison severity scores (p=0.007), mortality rates in the ICU (p=0.021), as well as different duration of hospital stay (p=0.037), serum creatinine level (p=0.002), erythrocyte sedimentation rate (p=0.025), and serum myoglobin (p=0.015). Conclusion: Most poisoning-induced hyperammonemia cases were transient and recovered without special treatment. Therefore, hyperammonemia is almost non-specific among poisoning patients.