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8,802 Possible Causes for Hepatic, I, carbamoylphosphate, Deficiency, synthetase

Did you mean: heparin, I, carbamoylphosphate, Deficiency, synthetase

  • Liver Fibrosis

    HSC-T6 cells were treated with oligo-peptide I-C-F-6, and rats were divided randomly into five groups: control (saline), CCl 4 , CCl 4 plus oligo-peptide I-C-F-6 (0.12 and[] A peculiar type of liver fibrosis was observed in a girl with carbamoylphosphate synthetase deficiency, who survived for 1 year and 7 months.[] Abstract Reversibility of hepatic fibrosis was demonstrated histologically in a case with subacute hepatitis.[] Variable degrees of liver fibrosis are noted in other inborn defects of the urea cycle, eg, in ornithine transcarbamylase and carbamoylphosphate synthetase deficiencies.[] Patients were divided as the presence of hepatic fibrosis.[]

  • Carbamoyl Phosphate Synthetase Deficiency

    […] of the enzyme carbamoyl phosphate synthetase I .[] Rapp Johannes Häberle Michael Linnebank Benedicht Wermuth Thorsten Marquardt Erik Harms Hans Georg Koch ORIGINAL PAPER 86 Downloads 17 Citations Abstract Deficiencies of carbamoylphosphate[] The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA).[] Most commonly, CPSI deficiency is diagnosed in neonates.[] Christoffels VM, Habets PEMH, Das AT, Clout DEW, van Roon MA, Moorman AFM, Lamers WH (2000) A single regulatory module of the carbamoylphosphate synthetase I gene executes[]

  • Citrullinemia

    Abstract Over the past decade, the ASS1 and SLC25A13 genes, which are responsible for citrullinemia types I and II, have been identified, and numerous mutations in these genes[] Urea cycle disorders are a collection of 8 enzymes involved in waste nitrogen excretion as urea including N-acetylglutamate synthase deficiency (NAGS), carbamoylphosphate[] He was diagnosed as having type II citrullinemia because of an elevated citrulline level on amino acid analysis and very low hepatic argininosuccinate synthetase activity.[] Abstract A patient with neonatal citrullinemia (argininosuccinic acid synthetase deficiency), a heritable disorder of the urea cycle, developed a generalized cutaneous eruption[] Enzymological analysis revealed that argininosuccinate synthetase (ASS) activities in the liver tissues of the patients decreased to 40% (Case 1), 20% (Case 2) compared with[]

  • Ornithine Transcarbamylase Deficiency

    I show how such biochemical information may be combined with genetic information, thus demonstrating the usefulness of biochemical data.[] There are seven disorders to be investigated: carbamoylphosphate synthetase I deficiency [CP...[] We present a case of a 2-year-old girl who was referred to a pediatric emergency department for evaluation of hepatitis, an uncommon presentation of ornithine transcarbamylase[] This can happen as a result of anorexia, starvation, malnutrition, pregnancy or even (in at least one case) as a result of gastric bypass surgery.[] N-carbamylglutamate is approved for the treatment of hyperammonemia in N-acetylglutamate synthetase deficiency and may have efficacy in other urea cycle disorders.[]

  • Membranous Glomerulonephritis

    Medicine, Japan. 2 Central Laboratory, Teikyo University School of Medicine, Japan. 3 Department of Pathology, Teikyo University School of Medicine, Japan. 4 Internal Medicine I,[] Abstract We report on a case of autoimmune hepatitis (AIH) associated with membranous glomerulonephritis.[] Selective IgA deficiency associated with glomerulonephritis was rare, while the clinical presentation in IgA deficiency-associated glomerulonephritis was variable.[] […] microdissected glomeruli of 8 MGN patients and showed the existence of other three immune proteins in MGN glomeruli (α-enolase, elongation factor 2 and Glycyl Aminoacyl-tRNA Synthetase[] On ultrastructural evaluation, the majority of cases showed stage I or II membranous changes.[]

    Missing: carbamoylphosphate
  • Thiamine Deficiency

    , i can have wet, or Dry beri beri, as well as WK syndrome?[] Synergistic effects of ammonia exposure and thiamine deficiency could explain the diencephalic and cerebellar symptomatology described in patients with "hepatic encephalopathy[] OBJECTIVE: Refeeding syndrome can occur in several contexts of relative malnutrition in which an overaggressive nutritional support is started.[] […] with elevated interstitial glutamate levels, lowered brain pH associated with increased lactate production, decreased levels of GFAP, reduction in the levels of glutamine synthetase[] RATIONALE: Serious neurological concomitants of alcoholism include Wernicke's encephalopathy (WE), Korsakoff's syndrome (KS), and hepatic encephalopathy (HE).[]

    Missing: carbamoylphosphate
  • Argininosuccinic Aciduria

    I try to keep meal times as stress free as possible - I know if I get stressed, Olivia will too.[] Variable degrees of liver fibrosis are noted in other inborn defects of the urea cycle, eg, in ornithine transcarbamylase and carbamoylphosphate synthetase deficiencies.[] Hepatomegaly and biochemical hepatitis, a feature of this condition, was accompanied by enlarged mitochondria with tubular paracrystalline inclusions not previously recognized[] Deficiencies of any of these enzymes of the cycle result in urea cycle disorders (UCD), a group of inborn errors of hepatic metabolism that often result in life threatening[] These findings suggest that the genes for argininosuccinate synthetase in most citrullinemia patients are transcribed and produce stable mRNA.[]

  • Pneumonia

    M 1 , Kondo Y 1 , Terasaki T 1 , Terasaki M 1 , Shimizu M 1 , Honda F 1 , Oyama A 1 , Takahashi H 1 , Yokosawa M 1 , Asashima H 1 , Hagiwara S 1 , Tsuboi H 1 , Matsumoto I[] CASE REPORT A 36-year-old homeless male Hispanic patient, who was a chronic smoker, with a history of intravenous drug abuse and a medical history of chronic hepatitis C virus[] We assessed the benefit of adjunct zinc therapy for severe pneumonia in children and determined whether the study children were zinc deficient.[] […] pneumonia due to anti-synthetase syndrome (ASS).[] I felt so helpless that I cried." In 1996, Dr Mohammod Jobayer Chisti was working in the paediatric department of the Sylhet Medical College Hospital in Bangladesh.[]

    Missing: carbamoylphosphate
  • Hyperammonemia

    However, arginase I (ARG1) deficiency, a rare autosomal recessive disorder, has classically been the exception.[] […] transcarbamoylase (OTC) deficiency Arginase deficiency Argininosuccinate synthase (ASS) deficiency – citrullinemia Argininosuccinate lyase (ASL) deficiency – argininosuccinic aciduria Carbamoylphosphate[] Here, we found that hepatic autophagy is critically involved in systemic ammonia homeostasis by providing key urea-cycle intermediates and ATP.[] CPS deficiency is a genetic disorder that causes hyperammonemia because of enzyme activity deficiency.[] - hyperammonemia due to N-acetylglutamate synthetase deficiency Online Mendelian Inheritance in Man (OMIM) 237300 - hyperammonemia due to carbamoyl phosphate synthetase I[]

  • Streptococcus Sobrinus

    The enzyme decreased glucan-binding lectin and/or glucosyltransferase I activities.[] Bone marrow as a potential source of hepatic oval cells. ‎[] The resulting plasmid pX1600 was transformed into the P1-deficient strain S. mutans 834 that has defects in saliva-mediated aggregation and in the ability to adhere to saliva-coated[] Cell proliferation follows the activation induced by the recombinant NAD( ) synthetase.[] Thus the activity of free, extracellular dextranase inhibitor is controlled by (i) the extent of binding to dextranase and (ii) the extent of adsorption to water-insoluble[]

    Missing: carbamoylphosphate

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