The location in chromosomes of genes encoding ornithine carbamoyltransferase (ornithine transcarbamylase, OTC) and prion protein (PrP) was determined by Southern blotting of DNAs obtained from a panel of hybrid (for x Chinese hamster) somatic cell clones, with human OTC and Chinese hamster PrP DNA fragments used as probes. The gene OTC was located in the X-chromosome and PrP was located in chromosome 14 of the fox.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Establishment and evaluation of a method for measuring ornithine transcarbamylase activity in micro blood of neonates.
Orphanet J Rare Dis
January 2025
Nanjing Women and Children's Healthcare Hospital, Center of Genetic Medicine, The Affiliated Obstetrics and Gynecology Hospital With Nanjing Medical University, No.123, Tianfei Xiang, Mochou Road, Nanjing, Jiangsu, China.
Background: Ornithine transcarbamylase deficiency exhibits a high degree of clinical heterogeneity, making its screening and classification challenging in some instances. In this study, we first established a simple and stable method for testing ornithine transcarbamylase activity using micro blood from newborns, rather than relying on venous blood.
Methods: The activity of ornithine transcarbamylase was assessed by measuring the concentration of citrulline produced in the reaction with carbamoyl phosphate and ornithine, using serum, plasma or micro blood.
[Tandem mass spectrometry screening and genetic analysis of neonates with Urea cycle disorders].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Department of Medical Genetics and Prenatal Diagnosis, Xuzhou Maternity and Child Health Care Hospital, Xuzhou, Jiangsu 221009, China.
Objective: To explore the results of four types of Urea cycle disorders (UCDs) in newborns from the Xuzhou region, assess the efficacy of newborn screening by tandem mass spectrometry (MS/MS), and analyze their genetic characteristics.
Methods: A retrospective analysis was performed using tandem mass spectrometry to screen for inherited metabolic disorders in 691 712 newborns at the Maternal and Child Health Care Hospital of Xuzhou from November 2015 to December 2023. Ten children (cases 1-10) were diagnosed with Ornithine transcarbamylase deficiency (OTCD), Carbamoylphosphate synthase 1 deficiency (CPS1D), Arginase deficiency (ARGD), and Argininosuccinate synthase deficiency (ASSD) based on MS/MS and genetic testing.
Undiagnosed partial ornithine transcarbamylase deficiency presenting as recurrent hyperammonaemic encephalopathy after capecitabine administration.
BMJ Case Rep
January 2025
Internal Medicine, Carolinas Medical Center, Charlotte, North Carolina, USA.
Capecitabine is a widely used drug for cancer treatment. Capecitabine is a derivative of 5-fluorouracil (5-FU). A known complication of 5-FU is hyperammonaemia which can cause encephalopathy.
View Article and Find Full Text PDFMaternal and Newborn Care for Ornithine Transcarbamylase Deficiency.
MCN Am J Matern Child Nurs
December 2024
Sharon Anderson is an Associate Professor, Division of Advanced Nursing Practice, Rutgers School of Nursing, Newark, NJ; and Advanced Practice Nurse, Medical Genetics, Rutgers Health, Rutgers Robert Wood Johnson Medical School, Child Health Institute of New Jersey, New Brunswick, NJ. Dr. Anderson can be reached at and
Article Synopsis
- Ornithine transcarbamylase (OTC) deficiency is the most common disorder affecting the urea cycle, which can lead to serious health issues like brain damage and even death if untreated.
- The condition is caused by genetic mutations in the OTC gene and has varying symptoms depending on the age of onset and severity.
- The overview also discusses diagnostic testing and provides treatment guidelines, especially for both carrier females and affected male newborns throughout their prenatal, natal, and postpartum phases.
A novel missense mutation in an Iranian girl: a case report.
J Pediatr Endocrinol Metab
January 2025
Cellular and Molecular Research Center, Research Institute for Prevention of Non-Communicable Diseases, Qazvin University of Medical Sciences, Qazvin, Iran.
Objectives: Ornithine transcarbamylase deficiency (OTCD) is the most common inborn error of the urea cycle, caused by mutations in the gene located on the X chromosome. OTCD presents in early and late-onset forms, with variable severity. Despite the high genetic heterogeneity, genotype-phenotype correlations help in prognosis and treatment planning.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!