How to Trip Rapid Review

Step 1: Select articles relevant to your search (remember the system is only optimised for single intervention studies)

Step 2: press

Step 3: review the result, and maybe amend the or if you know better! If we're unsure of the overall sentiment of the trial we will display the conclusion under the article title. We then require you to tell us what the correct sentiment is.

235 results for

Ornithine Transcarbamylase Deficiency

by
...
Latest & greatest
Alerts

Export results

Use check boxes to select individual results below

SmartSearch available

Trip's SmartSearch engine has discovered connected searches & results. Click to show

1. Clinical and cranial MRI features of female patients with ornithine transcarbamylase deficiency: Two case reports. (PubMed)

Clinical and cranial MRI features of female patients with ornithine transcarbamylase deficiency: Two case reports. Ornithine transcarbamylase deficiency (OTCD) is a common metabolic disease of urea circulation disorder. We reported the clinical, brain imaging and genetic characteristics of 2 cases with OTCD. The patients' clinical features, novel gene mutations, cranial MR specific imaging changes and blood tandem mass spectrometry, and urine gas chromatography-mass spectrometry were

2019 Medicine

2. Ornithine transcarbamylase deficiency that developed at the age of 19 years with acute brain edema (PubMed)

Ornithine transcarbamylase deficiency that developed at the age of 19 years with acute brain edema A 19-year-old man had nausea, diarrhea, and general malaise the day before requesting emergency transport to his former primary physician. The patient became restless and had tonic seizures after admission. The patient was transferred to our hospital as there had been no improvement in his level of consciousness. On arrival, cranial computed tomography showed generalized swelling, and blood (...) ammonia concentration was ≥500 μg/dL. After admission, seizures recurred continually despite careful monitoring and increased doses of sedatives and antiseizure drugs. Dilated pupils and a flat electroencephalogram were evident on day 4 of admission, and the patient died on day 11. Ornithine transcarbamylase deficiency was diagnosed at postmortem based on fractionation of blood and urine amino acids and orotic acid.Urea cycle disorders need to be treated urgently to prevent irreversible neurological

Full Text available with Trip Pro

2016 Acute medicine & surgery

3. Case 252: Acute Hyperammonemic Encephalopathy Resulting from Late-Onset Ornithine Transcarbamylase Deficiency. (PubMed)

Case 252: Acute Hyperammonemic Encephalopathy Resulting from Late-Onset Ornithine Transcarbamylase Deficiency. History A 19-year-old woman with no pertinent medical history was brought to the emergency department after being found unconscious on her bathroom floor by her roommate. In the preceding weeks, she had reported intractable nausea and vomiting, for which she had been taking ondansetron. No other medications had been prescribed. The day prior to presentation, she had contacted her

2018 Radiology

4. Mutation Study of Malaysian Patients with Ornithine Transcarbamylase Deficiency: Clinical, Molecular, and Bioinformatics Analyses of Two Novel Missense Mutations of the OTC Gene (PubMed)

Mutation Study of Malaysian Patients with Ornithine Transcarbamylase Deficiency: Clinical, Molecular, and Bioinformatics Analyses of Two Novel Missense Mutations of the OTC Gene Ornithine transcarbamylase deficiency (OTCD), an X-linked disorder that results from mutations in the OTC gene, causes hyperammonemia and leads to various clinical manifestations. Mutations occurring close to the catalytic site of OTCase can cause severe OTCD phenotypes compared with those caused by mutations occurring (...) to the development of OTCD. Docking analysis indicated that N-(phosphonoacetyl)-L-ornithine (PALO) was bound to the catalytic site of OTCase mutant structure with minimal conformational changes. However, the mutations disrupted interatomic interactions in the catalytic site. Therefore, depending on the severity of disruption occurring at the catalytic site, the mutation may affect the efficiency of mechanism and functions of OTCase.

Full Text available with Trip Pro

2018 BioMed research international

5. Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation (PubMed)

Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation An 18-month-old boy was diagnosed with late-onset ornithine transcarbamylase deficiency. Genetic analysis revealed a mosaic frameshift mutation (p.Q279fs) in the OTC gene. Despite the presence of a null mutation, he exhibited a milder phenotype, suggesting that the wild-type allele could rescue the function of OTC. The presence of mosaicism has great effects on the clinical phenotype and recurrence-risk

Full Text available with Trip Pro

2018 Human Genome Variation

6. Application of graft-derived cell-free DNA in ornithine transcarbamylase deficiency patient after living donor liver transplantation: Two case reports. (PubMed)

Application of graft-derived cell-free DNA in ornithine transcarbamylase deficiency patient after living donor liver transplantation: Two case reports. Graft-derived-cell-free DNA (Gcf-DNA) in plasma was a promising biomarker to monitor graft-rejection after liver transplantation. However, little is known about the application of Gcf-DNA in living-donor-liver-transplantation (LDLT).In this study, 2 patients diagnosed with Ornithine Transcarbamylase Deficiency (OTCD) were enrolled and indicated

2018 Medicine

7. Brain-dead Donors with Ornithine Transcarbamylase Deficiency: A Big Learning Opportunity in Clinical Evaluation. (PubMed)

Brain-dead Donors with Ornithine Transcarbamylase Deficiency: A Big Learning Opportunity in Clinical Evaluation. 28544377 2017 07 20 1600-6143 17 8 2017 Aug American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons Am. J. Transplant. Brain-Dead Donors With Ornithine Transcarbamylase Deficiency: A Big Learning Opportunity in Clinical Evaluation. 2229 10.1111/ajt.14367 Caballero F F Department of Emergency

Full Text available with Trip Pro

2017 American Journal of Transplantation

8. Clinical and mutation analysis of 24 Chinese patients with Ornithine transcarbamylase deficiency. (PubMed)

Clinical and mutation analysis of 24 Chinese patients with Ornithine transcarbamylase deficiency. The principal aim of this study was to examine the clinical manifestations, biochemical features, and molecular genetic characteristics of Chinese patients with ornithine transcarbamylase deficiency (OTCD) at a single medical center. We retrospectively analyzed 24 patients (17 males and 7 females) diagnosed with OTCD between 2006 and 2015. Five male patients had a neonatal presentation; 12 male

2017 Clinical Genetics

9. Ornithine Transcarbamylase Deficiency: If at First You Do Not Diagnose, Try and Try Again (PubMed)

Ornithine Transcarbamylase Deficiency: If at First You Do Not Diagnose, Try and Try Again Ornithine transcarbamylase (OTC) deficiency is well known for its diagnosis in the neonatal period. Presentation often occurs after protein feeding and manifests as poor oral intake, vomiting, lethargy progressing to seizure, respiratory difficulty, and eventually coma. Presentation at adulthood is rare (and likely underdiagnosed); however, OTC deficiency can be life-threatening and requires prompt (...) investigation showed hyperammonemia and increased urine orotic acid, ultimately leading to the diagnosis of OTC deficiency. This case highlights the importance of considering OTC deficiency in hospitalized adults, especially during the diagnostic evaluation for altered mental status.

Full Text available with Trip Pro

2017 Case reports in critical care

10. Hyperammonemia crisis following parturition in a female patient with ornithine transcarbamylase deficiency (PubMed)

Hyperammonemia crisis following parturition in a female patient with ornithine transcarbamylase deficiency Ornithine transcarbamylase deficiency (OTCD) is an X-linked disorder, with an estimated prevalence of 1 per 80000 live births. Female patients with OTCD develop metabolic crises that are easily provoked by non-predictable common disorders, such as genetic (private mutations and lyonization) and external factors; however, the outcomes of these conditions may differ. We resuscitated a female

Full Text available with Trip Pro

2017 World journal of hepatology

11. Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female (PubMed)

Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female Ornithine transcarbamylase deficiency (OTCD) is an X-linked urea cycle disorder with variable expressivity in heterozygous females. While liver function testing is often abnormal in patients with OTCD, liver failure is uncommon on presentation. A 13-month-old female with no significant past medical history presented with irritability, right arm weakness, and decreased appetite. Initial workup

Full Text available with Trip Pro

2017 JIMD reports

12. Hiding in Plain Sight, A Case of Ornithine Transcarbamylase Deficiency Unmasked Post-Liver Transplantation. (PubMed)

Hiding in Plain Sight, A Case of Ornithine Transcarbamylase Deficiency Unmasked Post-Liver Transplantation. Ornithine transcarbamylase deficiency represents the most common inherited defect of the urea cycle. This enzyme, predominantly found in the liver, plays a crucial role in recycling free ammonia, with deficiencies often leading to fatal complications. Here, we present the case of a 63-year-old man with alcoholic cirrhosis who underwent orthotopic liver transplantation, gradual worsening

Full Text available with Trip Pro

2016 American Journal of Transplantation

13. Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase Deficiency (PubMed)

Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase Deficiency A male patient, born in 1999, was diagnosed with ornithine transcarbamylase deficiency as neonate and was managed with a strict low-protein diet supplemented with essential amino acids, L-citrulline, and L-arginine as well as sodium benzoate. He had an extensive history of hospitalizations for hyperammonemic crises throughout childhood and early

Full Text available with Trip Pro

2016 JIMD reports

14. Unusual cause of general malaise: a young woman with ornithine transcarbamylase deficiency (PubMed)

Unusual cause of general malaise: a young woman with ornithine transcarbamylase deficiency A young woman presented with general malaise in relation to the metabolic condition ornithine transcarbamylase deficiency. Her ammonia level had risen to 229 µmol/L (normal range 0-59 µmol/L). She was treated using her emergency pack of intravenous medicines and made a complete response. We briefly discuss the need to make an urgent diagnosis, the 'mechanism' for checking serum ammonia levels

Full Text available with Trip Pro

2016 BMJ case reports

15. Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD) (PubMed)

Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD) Acute liver failure (ALF) has been reported in ornithine transcarbamylase deficiency (OTCD) and other urea cycle disorders (UCD). The frequency of ALF in OTCD is not well-defined and the pathogenesis is not known.To evaluate the prevalence of ALF in OTCD, we analyzed the Swiss patient cohort. Laboratory data from 37 individuals, 27 females and 10 males, diagnosed between 12/1991 and 03/2015

Full Text available with Trip Pro

2016 PloS one

16. Ornithine Transcarbamylase Deficiency

Ornithine Transcarbamylase Deficiency Ornithine Transcarbamylase Deficiency Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Ornithine (...) Transcarbamylase Deficiency Ornithine Transcarbamylase Deficiency Aka: Ornithine Transcarbamylase Deficiency , Hyperornithinemia II. Epidemiology Most common urea cycle disorder : 1:70,000 III. Pathophysiology X-Linked disorder IV. Signs: Boys (severe signs due to single X-Chromosome) Refractory Hyperammonemia Progressive encephalopathy V. Signs: Girl (mild signs due to Heterozygous) Mild hyperammonemia May present with patient avoiding protein in general VI. Management Acute benzoate phenylacetate Arginine

2018 FP Notebook

17. Fatal hyperammonaemia due to late-onset ornithine transcarbamylase deficiency. (PubMed)

Fatal hyperammonaemia due to late-onset ornithine transcarbamylase deficiency. In this case report we describe a 67-year-old male, admitted to the ICU with pneumonia who unexpectedly developed a fatal coma due to hyperammonaemia. At postmortem the diagnosis late-onset ornithine transcarbamylase deficiency was made. The non-specific clinical presentation, the rapid deterioration and incidentally the fatal outcome all underline the importance of recognition and knowledge of this genetic disorder

2016 Netherlands Journal of Medicine

18. Two novel mutations of ornithine transcarbamylase gene identified from three Chinese neonates with ornithine transcarbamylase deficiency (PubMed)

Two novel mutations of ornithine transcarbamylase gene identified from three Chinese neonates with ornithine transcarbamylase deficiency We aim to analyze the blood metabolic profiling and the gene mutation of ornithine transcarbamylase (OTC) in three neonates with ornithine transcarbamylase deficiency (OTCD). Three neonates with OTCD were included in this study. The profiling of amino acids and acylcarnitine was determined using MS-MS assay. The OTC exons were amplified using PCR amplification (...) in exon 10, leading to replacement of valine by glycine in codon 339. In case 3, a 995G > C mutation was noted in exon 9, resulting in missense mutation of tryptophane to serine in codon332. Three types of OTC gene mutations were identified in Chinese neonates with OTC deficiency, among which two novel mutations, including 1016T > G and 995G > C, are presented uniquely in our study.

Full Text available with Trip Pro

2015 International journal of clinical and experimental medicine

19. Severe Hyperammonemia in Late-Onset Ornithine Transcarbamylase Deficiency Triggered by Steroid Administration (PubMed)

Severe Hyperammonemia in Late-Onset Ornithine Transcarbamylase Deficiency Triggered by Steroid Administration Ornithine transcarbamylase deficiency (OTCD) is a rare X-linked disorder of urea synthesis leading to hyperammonemia. Several late-onset cases have been reported. Undiagnosed and untreated patients are at the risk of death or suffering from irreversible sequelae. We describe a 56-year-old patient who presented with acute encephalopathy after steroid treatment. Hyperammonemia due to OTCD

Full Text available with Trip Pro

2015 Case reports in neurological medicine

20. Reduced Functional Connectivity of Default Mode and Set-Maintenance Networks in Ornithine Transcarbamylase Deficiency (PubMed)

Reduced Functional Connectivity of Default Mode and Set-Maintenance Networks in Ornithine Transcarbamylase Deficiency Ornithine transcarbamylase deficiency (OTCD) is an X-chromosome linked urea cycle disorder (UCD) that causes hyperammonemic episodes leading to white matter injury and impairments in executive functioning, working memory, and motor planning. This study aims to investigate differences in functional connectivity of two resting-state networks--default mode and set-maintenance

Full Text available with Trip Pro

2015 PloS one

To help you find the content you need quickly, you can filter your results via the categories on the right-hand side >>>>