1.Acute treatment of hyperammonemia by continuous renal replacement therapy in a newborn patient with ornithine transcarbamylase deficiency.
Hyo Jeong KIM ; Se Jin PARK ; Kook In PARK ; Jin Sung LEE ; Ho Sun EUN ; Ji Hong KIM ; Jae Il SHIN
Korean Journal of Pediatrics 2011;54(10):425-428
Ornithine transcarbamylase (OTC) deficiency is well known as the most common inherited disorder of the urea cycle, and 1 of the most common causes of hyperammonemia in newborns. We experienced a case of a 3-day-old boy with OTC deficiency who appeared healthy in the first 2 days of life but developed lethargy and seizure soon afterwards. His serum ammonia level was measured as >1700 microg/dL (range, 0 to 45 microg/dL). Continuous renal replacement therapy (CRRT) in the mode of continuous venovenous hemodiafiltration was immediately applied to correct the raised ammonia level. No seizure occurred after the elevated ammonia level was reduced. Therefore, CRRT should be included as 1 of the treatment modalities for newborns with inborn errors of metabolism, especially hyperammonemia. Here, we report 1 case of successful treatment of hyperammonemia by CRRT in a neonate with OTC deficiency.
Ammonia
;
Hemodiafiltration
;
Humans
;
Hyperammonemia
;
Infant
;
Infant, Newborn
;
Lethargy
;
Metabolism, Inborn Errors
;
Ornithine
;
Ornithine Carbamoyltransferase
;
Ornithine Carbamoyltransferase Deficiency Disease
;
Renal Replacement Therapy
;
Seizures
;
Urea
2.Preliminary study of glyceryl phenylbutyrate therapy for Ornithine transcarbamylase deficiency and a literature review.
Duo ZHOU ; Xiaohong SHANG ; Yu QIAO ; Yi CHENG ; Zinan YU ; Xinwen HUANG
Chinese Journal of Medical Genetics 2023;40(9):1107-1112
OBJECTIVE:
To evaluate the efficacy and safety of glyceryl phenylbutyrate (GPB) therapy for patients with Ornithine transcarbamylase deficiency (OTCD).
METHODS:
Two children with OTCD were selected as the study subjects, and their clinical manifestations, blood ammonia, liver enzymes, growth and development information following the treatment with GPB were retrospectively analyzed. A literature review was also carried out by searching the PubMed database for studies on the GPB treatment for urea cycle disorders.
RESULTS:
With the GPB treatment, the blood ammonia and liver enzyme level in both patients have decreased to the normal range within 3 months. Motor development in child 2 has improved. No adverse reaction was noted, except for transient palmar greasy smell and loss of appetite in child 1. Analysis of the literature showed that patients had lower ammonia exposure, lower annual incidence of hyperammonemic crisis, more actual protein intake and fewer adverse events during GPB treatment.
CONCLUSION
GPB is safe and effective for the treatment of OTCD.
Child
;
Humans
;
Ornithine Carbamoyltransferase Deficiency Disease/drug therapy*
;
Phenylbutyrates/therapeutic use*
;
Ammonia
;
Retrospective Studies
3.Neonate-onset ornithine transcarbamylase deficiency.
Rui-Wei GAO ; Yin BA ; Rong ZHANG ; Yun CAO ; Lin YANG ; Bing-Bing WU ; Wen-Hao ZHOU ; Jian-Guo ZHOU
Chinese Journal of Contemporary Pediatrics 2023;25(4):431-435
The male neonate in this case study was admitted to the hospital at 15 hours of age due to respiratory distress for 15 hours and poor response for 3 hours after resuscitation from asphyxia. The neonate was highly unresponsive, with central respiratory failure and seizures. Serum ammonia was elevated (>1 000 μmol/L). Blood tandem mass spectrometry revealed a significant decrease in citrulline. Rapid familial whole genome sequencing revealed OTC gene mutations inherited from the mother. Continuous hemodialysis filtration and other treatments were given. Neurological assessment was performed by cranial magnetic resonance imaging and electroencephalogram. The neonate was diagnosed with ornithine transcarbamylase deficiency combined with brain injury. He died at 6 days of age after withdrawing care. This article focuses on the differential diagnosis of neonatal hyperammonemia and introduces the multidisciplinary management of inborn error of metabolism.
Humans
;
Infant, Newborn
;
Male
;
Citrulline
;
Electroencephalography
;
Hyperammonemia
;
Ornithine Carbamoyltransferase Deficiency Disease/therapy*
;
Seizures
4.Consensus on diagnosis and treatment of ornithine trans-carbamylase deficiency.
Journal of Zhejiang University. Medical sciences 2020;49(5):539-547
Ornithine transcarbamylase deficiency(OTCD)is a most common ornithine cycle (urea cycle) disorder. It is a X-link inherited disorder caused by
Humans
;
Hyperammonemia/etiology*
;
Liver Transplantation
;
Nervous System Diseases/prevention & control*
;
Ornithine Carbamoyltransferase Deficiency Disease/therapy*
5.Lethal Hyperammonemia due to Ornithine Transcarbamylase Deficiency in a Patient with Severe Septic Shock.
Ji An HWANG ; Joo Han SONG ; Young Seok LEE ; Kyung Soo CHUNG ; Song Yee KIM ; Eun Young KIM ; Ji Ye JUNG ; Young Ae KANG ; Young Sam KIM ; Joon CHANG ; Moo Suk PARK
Korean Journal of Critical Care Medicine 2016;31(2):140-145
Severe hyperammonemia can occur as a result of inherited or acquired liver enzyme defects in the urea cycle, among which ornithine transcarbamylase deficiency (OTCD) is the most common form. We report a very rare case of a 45-year-old Korean male who was admitted to the intensive care unit (ICU) due to severe septic shock with acute respiratory failure caused by Pneumocystis jiroveci pneumonia. During his ICU stay with ventilator care, the patient suffered from marked hyperammonemia (>1,700 µg/dL) with abrupt mental change leading to life-threatening cerebral edema. Despite every effort including continuous renal replacement therapy and use of a molecular adsorbent recirculating system (extracorporeal liver support-albumin dialysis) to lower his serum ammonia level, the patient was not recovered. The lethal hyperammonemia in the patient was later proven to be a manifestation of acquired liver enzyme defect known as OTCD, which is triggered by serious catabolic conditions, such as severe septic shock with acute respiratory failure.
Ammonia
;
Brain Edema
;
Humans
;
Hyperammonemia*
;
Intensive Care Units
;
Liver
;
Male
;
Middle Aged
;
Ornithine Carbamoyltransferase Deficiency Disease*
;
Ornithine Carbamoyltransferase*
;
Ornithine*
;
Pneumocystis jirovecii
;
Pneumonia
;
Renal Replacement Therapy
;
Respiratory Insufficiency
;
Shock, Septic*
;
Urea
;
Ventilators, Mechanical
6.A Case of Ornithine Transcarbamylase Deficiency Successfully Treated with Protein Restriction and Living Related Liver Transplantation.
Bong Seong KIM ; Kyung Mo KIM ; Han Wook YOO ; Sung Gyu LEE
Journal of the Korean Pediatric Society 1999;42(6):868-873
Ornithine transcarbamylase deficiency(OTCD), the most common inborn error of the urea cycle, is inherited in X-linked manner. In affected hemizygote males, OTCD manifests hyperammonemic coma that often leads to death during the newborn period. Our patient was at high risk for inborn error of urea cycle metabolism, since his two elder brothers died a few days after birth due to hyperammonemia. He was diagnosed as OTCD based on biochemical profiles and direct sequencing of the OTC gene. He has been managed with Ross metabolic protocol including protein restriction, administration of sodium benzoate, phenylacetate, arginine, citrulline, and diet therapy (Cyclinex-I ) since birth. At the 8 months of age, we performed living-related liver transplantation(LRLT) using his father's left lateral segment. The patient's serum ammonia level was restored to normal after LRLT without protein restriction. During postoperative follow up for 10 months, he was still in normal neurological and developmental status.
Ammonia
;
Arginine
;
Citrulline
;
Coma
;
Diet
;
Diet Therapy
;
Follow-Up Studies
;
Hemizygote
;
Humans
;
Hyperammonemia
;
Infant, Newborn
;
Liver Transplantation*
;
Liver*
;
Male
;
Metabolism
;
Ornithine Carbamoyltransferase Deficiency Disease*
;
Ornithine Carbamoyltransferase*
;
Ornithine*
;
Parturition
;
Siblings
;
Sodium Benzoate
;
Urea
7.Lethal Hyperammonemia due to Ornithine Transcarbamylase Deficiency in a Patient with Severe Septic Shock
Ji An HWANG ; Joo Han SONG ; Young Seok LEE ; Kyung Soo CHUNG ; Song Yee KIM ; Eun Young KIM ; Ji Ye JUNG ; Young Ae KANG ; Young Sam KIM ; Joon CHANG ; Moo Suk PARK
The Korean Journal of Critical Care Medicine 2016;31(2):140-145
Severe hyperammonemia can occur as a result of inherited or acquired liver enzyme defects in the urea cycle, among which ornithine transcarbamylase deficiency (OTCD) is the most common form. We report a very rare case of a 45-year-old Korean male who was admitted to the intensive care unit (ICU) due to severe septic shock with acute respiratory failure caused by Pneumocystis jiroveci pneumonia. During his ICU stay with ventilator care, the patient suffered from marked hyperammonemia (>1,700 µg/dL) with abrupt mental change leading to life-threatening cerebral edema. Despite every effort including continuous renal replacement therapy and use of a molecular adsorbent recirculating system (extracorporeal liver support-albumin dialysis) to lower his serum ammonia level, the patient was not recovered. The lethal hyperammonemia in the patient was later proven to be a manifestation of acquired liver enzyme defect known as OTCD, which is triggered by serious catabolic conditions, such as severe septic shock with acute respiratory failure.
Ammonia
;
Brain Edema
;
Humans
;
Hyperammonemia
;
Intensive Care Units
;
Liver
;
Male
;
Middle Aged
;
Ornithine Carbamoyltransferase Deficiency Disease
;
Ornithine Carbamoyltransferase
;
Ornithine
;
Pneumocystis jirovecii
;
Pneumonia
;
Renal Replacement Therapy
;
Respiratory Insufficiency
;
Shock, Septic
;
Urea
;
Ventilators, Mechanical
8.Hyperammonemia in a Patient with Late-Onset Ornithine Carbamoyltransferase Deficiency.
Dae Eun CHOI ; Kang Wook LEE ; Young Tai SHIN ; Ki Ryang NA
Journal of Korean Medical Science 2012;27(5):556-559
Ornithine carbamoyltransferase (OTC) deficiency is a urea cycle disorder that causes the accumulation of ammonia, which can lead to encephalopathy. Adults presenting with hyperammonemia who are subsequently diagnosed with urea cycle disorders are rare. Herein, we report a case of a late-onset OTC deficient patient who was successfully treated with arginine, benzoate and hemodialysis. A 59-yr-old man was admitted to our hospital with progressive lethargy and confusion. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. A plasma amino acid and urine organic acid analysis revealed OTC deficiency. Despite the administration of a lactulose enema, the patient's serum ammonia level increased and he remained confused, leading us to initiate acute hemodialysis. After treatment with arginine, sodium benzoate and hemodialysis, the patient's serum ammonia level stabilized and his mental status returned to normal.
Age of Onset
;
Ammonia/blood
;
Arginine/therapeutic use
;
Citrulline/blood
;
Humans
;
Hyperammonemia/*etiology
;
Male
;
Middle Aged
;
Ornithine/blood
;
Ornithine Carbamoyltransferase Deficiency Disease/complications/*diagnosis/drug therapy
;
Pedigree
;
Renal Dialysis
;
Sodium Benzoate/therapeutic use