Valproate is widely used because of broad spectrum of action, but it can produce an encephalopathy resulting from hyperammonemia even at the therapeutic range of valproate and is called as valproate-induced encephalopathy (VHE). Delay in recognition of VHE can result in the development of potentially life-threatening complications. Fortunately, it is reversible with discontinuing valproate. A 65-year-old man became progressively lethargic with impaired gait and poor cognitive function while taking valproate as alternative to zonisamide. Routine investigations of admission profiles were performed but revealed no abnormalities. Next, we checked serum ammonia level to identify other possible causes and detected hyperammonemia despite the therapeutic range of valproate in the absence of any abnormalities in liver enzymes. On cessation of valproate, he has achieved dramatic clinical improvement including the reversal of hyperammonemia. We confirmed the diagnosis of VHE. This emphasizes the importance of rapid diagnosis and proper management of VHE in order to prevent the neurological damage and minimize complications.
Aged ; Ammonia ; Gait ; Humans ; Hyperammonemia ; Isoxazoles ; Liver ; Valproic Acid

Seventeen dogs were treated with L-ornithin-L-aspartate (LOLA; experimental group). Three dogs were treated with lactulose recognized therapy (control group). Following LOLA administration, 15 dogs experienced a significant decrease in ammonia level (p < 0.05) and showed clinical signs of improvement. However, there were no clinical signs of improvement in two dogs, even though the ammonia level decreased. Conversely, the clinical signs of the control group also improved and the ammonia level decreased, although these changes were not significant (p > 0.05). These results suggest that LOLA is an effective drug to treat hyperammonemia in veterinary medicine.
Ammonia ; Animals ; Dogs* ; Dipeptides* ; Hepatic Encephalopathy* ; Hyperammonemia ; Lactulose ; Veterinary Medicine

Neonatal hyperammonemia is a disorder of ammonia metabolism that occurs in the neonatal period. It is a clinical syndrome characterized by abnormal accumulation of ammonia in the blood and dysfunction of the central nervous system. Due to its low incidence and lack of specificity in clinical manifestations, it is easy to cause misdiagnosis and missed diagnosis. In order to further standardize the diagnosis and treatment of neonatal hyperammonemia, the Youth Commission, Subspecialty Group of Neonatology, Society of Pediatrics, Chinese Medical Association formulated the expert consensus based on clinical evidence in China and overseas and combined with clinical practice experience,and put forward 18 recommendations for the diagnosis and treatment of neonatal hyperaminemia.
Humans ; Infant, Newborn ; Ammonia ; China ; Consensus ; Hyperammonemia/therapy*

Transient hyperammonemia of the newborn is an overwhelming disease manifestated by hyperammonemic coma in ill premature infant. This recognized metabolic disorder is chiefly characterized by severe hyperammonemia in the postnatal period, a comatous state, absence of abnormal organic aciduria, normal activity of urea cycle enzymes and, usually, complete recovery. The etiology is unknown. Infant had mild respiratory distress that progressed within 48 hours to deep coma requiring ventilatory assistance and had marked hyperammonemia. The degree of neurologic impairment and developmental delay in this disorder depends on the duration of the hyperammonemic coma. So, treatment of hyperammonemia should be initiated promptly and continued vigorously. We report of a preterm infant (34+5 weeks of gestation) presenting with respiratory distress, seizure, coma, and marked elevated plasma ammonia level.
Ammonia ; Coma ; Humans ; Hyperammonemia* ; Infant ; Infant, Newborn* ; Infant, Premature ; Plasma ; Seizures ; Urea

Citrullinemia type I is an urea cycle defect caused by mutations in the argininosuccinate synthetase (ASS1) gene. We report a novel argininosuccinate synthetase gene mutation in a Korean family with type I citrullinemia. Metabolic evaluation revealed significant hyperammonemia. Amino acid/acylcarnitine screening using tandem mass spectrometry showed high level of citrulline. Plasma amino acid analysis showed high level of citrulline and the urine organic acid analysis showed makedly increased level of orotic acid. To confirm diagnosis of citrullinemia we did mutation analysis of the ASS1 gene. The patient was found to have mutations of c.689G>C (p.G230A) and c.892G>A (p.E298K), which were new types of argininosuccinate synthetase gene mutation have never been reported in Korea. We report a novel case of argininosuccinate synthetase 1 gene mutation and suggest that the gene study to the family members is necessary to carry out when a patient is diagnosed as citrullinemia.
Argininosuccinate Synthase ; Citrulline ; Citrullinemia ; Humans ; Hyperammonemia ; Korea ; Mass Screening ; Orotic Acid ; Plasma ; Tandem Mass Spectrometry ; Urea

Citrullinemia type I is an urea cycle defect caused by mutations in the argininosuccinate synthetase (ASS1) gene. We report a novel argininosuccinate synthetase gene mutation in a Korean family with type I citrullinemia. Metabolic evaluation revealed significant hyperammonemia. Amino acid/acylcarnitine screening using tandem mass spectrometry showed high level of citrulline. Plasma amino acid analysis showed high level of citrulline and the urine organic acid analysis showed makedly increased level of orotic acid. To confirm diagnosis of citrullinemia we did mutation analysis of the ASS1 gene. The patient was found to have mutations of c.689G>C (p.G230A) and c.892G>A (p.E298K), which were new types of argininosuccinate synthetase gene mutation have never been reported in Korea. We report a novel case of argininosuccinate synthetase 1 gene mutation and suggest that the gene study to the family members is necessary to carry out when a patient is diagnosed as citrullinemia.
Argininosuccinate Synthase ; Citrulline ; Citrullinemia ; Humans ; Hyperammonemia ; Korea ; Mass Screening ; Orotic Acid ; Plasma ; Tandem Mass Spectrometry ; Urea

A deficiency of the urea cycle enzyme, argininosuccinate synthetase which is produced in liver, makes citrullinemia, which is an autosomal recessive disorder. As the liver is the only organ which transforms ammonia into urea, liver transplantation has been considered as an effective alternative therapy to classical dietary and medical therapy. We have experienced perioperative anesthetic care for a 27-year-old male with citrullinemia undergoing successful living donor auxiliary partial orthotopic liver transplantation (APOLT). After the liver transplantation, the postoperative clinical courses of the patient were uneventful, and the neurological symptoms were completely resolved. The plasma concentrations of ammonia and citrulline normalized rapidly without any kinds of protein dietary restrictions. We present this case with a brief review of literature.
Adult ; Ammonia ; Argininosuccinate Synthase ; Citrulline ; Citrullinemia ; Humans ; Hyperammonemia ; Liver ; Liver Transplantation ; Living Donors ; Male ; Plasma ; Urea

Acute hyperammonemia is a medical emergency in the newborn. Efficient, prompt removal of serum ammonia is essential in preventing irreversible brain damage in order to prevent the profound central nervous system dysfunction due to hyperammonia. We report a case of 2.3 kg, 5-day old girl with methylmalonic acidemia who presented with severe hyperammonemia and was successfully treated with continuous venovenous hemodiafiltration(CVVHDF). CVVHDF is an effective and safe method of ammonia removal in the newborn.
Ammonia ; Brain ; Central Nervous System ; Emergencies ; Female ; Hemodiafiltration* ; Humans ; Hyperammonemia* ; Infant, Newborn

We report a case of a 34-year-old woman who was in temporary delirium and hyperammonemia during treatment of bipolar affective disorder with valproate. Patient showed delirium after 20 days of treatment, while the serum valproate level was within the therapeutic range without any sign of hepatic insufficiency. However, the patient had increased serum ammonia level (121 microg/mL), and valproate was discontinued due to suspicion of valproate-induced hyperammonemic encephalopathy (VHE). Serum valproate level was normalized with reduced delirium after valproate has been discontinued. Few VHE in psychiatric literature has been documented, because of possible confusion between VHE and preexisting psychiatric symptoms. Clinicians should be cautious about the potential risk for hyperammonemic encephalopathy caused by valproate medication.
Adult ; Ammonia ; Delirium ; Female ; Hepatic Insufficiency ; Humans ; Hyperammonemia ; Mood Disorders ; Valproic Acid

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.
Diet, Protein-Restricted ; Humans ; Hyperammonemia ; Infant, Newborn ; Renal Replacement Therapy ; Urea Cycle Disorders, Inborn