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Transcarbamylase Deficiency (transcarbamylase + deficiency)
Kinds of Transcarbamylase Deficiency Selected AbstractsAcrodermatitis Enteropathica-like Dermatosis Associated with Ornithine Transcarbamylase DeficiencyPEDIATRIC DERMATOLOGY, Issue 4 2007José C. Pascual M.D. Ornithine transcarbamylase deficiency is the most frequent urea cycle disorder. It is a hereditary-X-linked disease with over 150 mutations described (1).Ornithine transcarbamylase deficiency causes vomiting, lethargy, hyperventilation, and even death, mainly in the neonatal period (2). Ammonia, an extremely toxic molecule for the organism, is generated during protein catabolism and is accumulated in patients with this deficiency. Part of the treatment consists of a low-protein diet, to avoid hyperammonemia episodes, which can even have a fatal outcome. Patients can become deficient in several amino acids, either through the low-protein diet or directly through the primary enzyme deficiency; this in turn can cause an acrodermatitis enteropathica-like dermatosis. [source] Impact of selected inborn errors of metabolism on prenatal and neonatal developmentIUBMB LIFE, Issue 6 2010Sabine Illsinger Abstract In general, data regarding maturational processes of different metabolic pathways in the very vulnerable fetal and neonatal period are rare. This review is to substantiate the impact of selected inborn errors of metabolism on this critical period of life and their clinical manifestation. Significant adaptation of mitochondrial/energy-, carbohydrate-, lysosomal-, and amino acid-metabolism occurs during early prenatal and neonatal development. In utero, metabolic environment has an impact on the development of the fetus as well as fetal organ maturation. Defects of distinct metabolic pathways could therefore already be of significant relevance in utero and for clinical manifestations in the early fetal and neonatal period. Disturbances of these pathways may influence intrauterine growth and health. Production of a toxic intrauterine milieu, energy-deficiency, modification of membrane function, or disturbance of the normal intrauterine expression of genes may be responsible for fetal compromise and developmental disorders. Three categories of metabolic disorders will be discussed: the "intoxication type" (classical galactosemia, ornithine transcarbamylase deficiency, and "maternal phenylketonuria"), the "storage type" (Morbus Niemann Pick type C), and the "energy deficient type" (including long-chain fatty acid oxidation disorders, pyruvate dehydrogenase deficiency, and respiratory chain defects). For these disorders, the pathophysiology of early manifestation, special aspects regarding the prenatal and neonatal period, and diagnostic as well as therapeutic options are presented. © 2010 IUBMB IUBMB Life, 62(6): 403,413, 2010 [source] Anaesthetic management of a patient with ornithine transcarbamylase deficiencyACTA ANAESTHESIOLOGICA SCANDINAVICA, Issue 10 2006R. A. Sunder No abstract is available for this article. [source] Current role of liver transplantation for the treatment of urea cycle disorders: A review of the worldwide English literature and 13 cases at Kyoto UniversityLIVER TRANSPLANTATION, Issue 11 2005Daisuke Morioka To address the current role of liver transplantation (LT) for urea cycle disorders (UCDs), we reviewed the worldwide English literature on the outcomes of LT for UCD as well as 13 of our own cases of living donor liver transplantation (LDLT) for UCD. The total number of cases was 51, including our 13 cases. The overall cumulative patient survival rate is presumed to be more than 90% at 5 years. Most of the surviving patients under consideration are currently doing well with satisfactory quality of life. One advantage of LDLT over deceased donor liver transplantation (DDLT) is the opportunity to schedule surgery, which beneficially affects neurological consequences. Auxiliary partial orthotopic liver transplantation (APOLT) is no longer considered significant for the establishment of gene therapies or hepatocyte transplantation but plays a significant role in improving living liver donor safety; this is achieved by reducing the extent of the hepatectomy, which avoids right liver donation. Employing heterozygous carriers of the UCDs as donors in LDLT was generally acceptable. However, male hemizygotes with ornithine transcarbamylase deficiency (OTCD) must be excluded from donor candidacy because of the potential risk of sudden-onset fatal hyperammonemia. Given this possibility as well as the necessity of identifying heterozygotes for other disorders, enzymatic and/or genetic assays of the liver tissues in cases of UCDs are essential to elucidate the impact of using heterozygous carrier donors on the risk or safety of LDLT donor-recipient pairs. In conclusion, LT should be considered to be the definitive treatment for UCDs at this stage, although some issues remain unresolved. (Liver Transpl 2005;11:1332,1342.) [source] Anesthetic implications of ornithine transcarbamylase deficiencyPEDIATRIC ANESTHESIA, Issue 7 2010ANDREA P. DUTOIT MD Summary Background:, Ornithine transcarbamylase deficiency (OTCD) is an X-linked urea cycle disorder associated with potentially fatal episodes of hyperammonemia. Children with OTCD often require anesthesia. There is insufficient information regarding perioperative complications and optimal management of anesthesia in these patients. Aim:, To retrospectively review the medical records of children with OTCD to ascertain the nature and frequency of peri-procedural complications. Methods/Materials:, The electronic medical records of Mayo Clinic patients with OTCD who underwent anesthesia between the dates of January 2003 and September 2009 were reviewed. Results:, Nine patients with OTCD underwent 25 anesthetics using a variety of anesthetic techniques, including four major surgeries. Eleven procedures were performed prior to OTCD diagnosis and those patients were not receiving therapy for a urea cycle disorder. In the other cases, patients were on a variety of therapies for OTCD. Fourteen patients were outpatient procedures. Clinical signs of postoperative metabolic decompensation did not occur. Conclusions:, In this series, patients with OTCD tolerated anesthesia well. Choice of perioperative management of OTCD and the choice of anesthetic technique should be individualized and based on clinical circumstances, but should have the underlying aim of minimizing protein catabolism. It appears patients with stable OTCD may undergo minor procedures as outpatients safely. [source] Ornithine transcarbamylase deficiency: A possible risk factor for thrombosis,,PEDIATRIC BLOOD & CANCER, Issue 1 2009Lakshmi Venkateswaran MD Abstract Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle defect. Thromboembolic complications have not heretofore been linked with this diagnosis. We describe four patients with neonatal-onset OTC deficiency who developed vascular thromboses. One patient had arterial thrombosis; the rest developed venous thromboses. Multiple pro-thrombotic risk factors were identified. Low plasma arginine levels were observed in all patients at the time of thrombosis. Arginine deficiency and the resultant nitric oxide insufficiency may contribute to thrombotic risk. Careful normalization of plasma arginine and citrulline levels and increased surveillance for thrombotic complications should be considered in patients with OTC deficiency. Pediatr Blood Cancer 2009;53:100,102. © 2009 Wiley-Liss, Inc. [source] Acrodermatitis Enteropathica-like Dermatosis Associated with Ornithine Transcarbamylase DeficiencyPEDIATRIC DERMATOLOGY, Issue 4 2007José C. Pascual M.D. Ornithine transcarbamylase deficiency is the most frequent urea cycle disorder. It is a hereditary-X-linked disease with over 150 mutations described (1).Ornithine transcarbamylase deficiency causes vomiting, lethargy, hyperventilation, and even death, mainly in the neonatal period (2). Ammonia, an extremely toxic molecule for the organism, is generated during protein catabolism and is accumulated in patients with this deficiency. Part of the treatment consists of a low-protein diet, to avoid hyperammonemia episodes, which can even have a fatal outcome. Patients can become deficient in several amino acids, either through the low-protein diet or directly through the primary enzyme deficiency; this in turn can cause an acrodermatitis enteropathica-like dermatosis. [source] | ||||||||||