Variant analysis and PGT-M of OTC gene in a Chinese family with ornithine carbamoyltransferase deficiency [PDF]
BMC Pregnancy and ChildbirthBackground Ornithine carbamoyltransferase deficiency (OTCD) is a kind of X-linked metabolic disease caused by a deficiency in ornithine transcarbamylase leading to urea cycle disorders.
Yao Zhou +5 more
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Infarction or Metabolic Breakdown? Longitudinally Extensive Diffusion-Restricted Lesions from the Medulla Oblongata to the Lumbar Spinal Cord [PDF]
DiagnosticsA 78-year-old woman with a history of rheumatoid arthritis (treated with methotrexate) developed disturbed consciousness, emesis, and intestinal perforation. Initial labs revealed hyperammonemia (189 μg/dL) and hypertonic dehydration.
Yuka Nakaya +7 more
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Molecular Genetics and Metabolism ReportsBranched-chain amino acids (BCAAs) are important for normal growth, development, and function. In urea cycle disorders (UCDs), plasma BCAA levels can be relatively low; this has been attributed variously to low protein intake, hyperammonaemia, and ...
Mildrid Yeo +4 more
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Clinical characteristics and molecular genetic analysis of ten cases of ornithine carbamoyltransferase deficiency in southeastern China [PDF]
Italian Journal of PediatricsBackground This study aimed to investigate the clinical and molecular genetic characteristics of ten children with ornithine carbamoyltransferase deficiency (OTCD) in southeastern China, as well as the correlation between the genotype and phenotype of ...
Gaopin Yuan +5 more
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Considerations on urea cycle disorders: a child with ornithine transcarbamylase deficiency. [PDF]
Pediatric Anesthesia and Critical Care Journal (PACCJ), 2016 Ornithine transcarbamylase deficiency is the most common inside the group of the urea cycle disorders. Anesthesic management focus on reduce the patient ́s stress along all the surgical process.
M. Bellido +3 more
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Regulation of citrulline synthesis in human enterocytes: Role of hypoxia and inflammation
, 2021 International audienceAbstract Intensive care unit patients and chronic airway inflammatory disease are characterized by chronic systemic hypoxia and inflammation inducing a decrease in nitric oxide release due to impaired l ‐arginine (ARG) homeostasis ...
Charlotte Breuillard +13 more
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MedEdPORTAL, 2007 This resource is a problem-based learning (PBL) case featuring a female patient who has problems with food containing protein. As the case progresses it becomes evident that there is a problem handling any quantity of protein and that this problem may be
Marshall Anderson, Mary Kirkish
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The role of mTOR in alpha-1 antitrypsin deficiency related liver disease
, 2023 Alpha-1 antitrypsin deficiency (AATD) is a rare, hereditary condition with the liver affection arising due to the proteotoxic stress being the second leading cause of mortality.
Lossie, Lisa
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Late-Onset Ornithine Carbamoyltransferase Deficiency Accompanying Acute Pancreatitis and Hyperammonemia [PDF]
, 2013 Hyperammonemia related to urea cycle disorders is a rare cause of potentially fatal encephalopathy that is encountered in intensive care units (ICUs). Left undiagnosed, this condition may manifest irreversible neuronal damage.
José Jukemura +2 more
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