1/14. Neonatal presentation of adult-onset type II citrullinemia.adult-onset type II citrullinemia (CTLN2) is characterized by a liver-specific argininosuccinate synthetase deficiency caused by a deficiency of the citrin protein encoded by the SLC25A13 gene. Until now, however, no SLC25A13 mutations have been reported in children with liver diseases. We described three infants who presented as neonates with intrahepatic cholestasis associated with hypermethioninemia or hypergalactosemia detected by neonatal mass screening. dna analyses of SLC25A13 revealed that one patient was a compound heterozygote for the 851de14 and IVS11 IG-->A mutations and two patients (siblings) were homozygotes for the IVS11 lG-->A mutation. These results suggested that there may be a variety of liver diseases related to CTLN2 in children.- - - - - - - - - - ranking = 1keywords = adult-onset (Clic here for more details about this article) |
2/14. Infantile cholestatic jaundice associated with adult-onset type II citrullinemia.adult-onset type II citrullinemia, characterized by a liver-specific argininosuccinate synthetase deficiency, is caused by a deficiency of citrin that is encoded by the SLC25A13 gene. Three patients with infantile cholestatic jaundice were found to have mutations of the SLC25A13 gene. adult-onset type II citrullinemia may be associated with infantile cholestatic disease.- - - - - - - - - - ranking = 1keywords = adult-onset (Clic here for more details about this article) |
3/14. Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy.We describe 2 patients with adult-onset type II citrullinemia who developed transient hypoproteinemia and jaundice in early infancy. Liver histology showed a marked fatty change and fibrosis. After the patients had lived without symptoms to the ages of 5 and 16 years, respectively, the diagnosis was made by genetic analysis.- - - - - - - - - - ranking = 1.25keywords = adult-onset (Clic here for more details about this article) |
4/14. MRI in a case of adult-onset citrullinemia.A 42-year-old man presented with a history of repeated episodes of consciousness disturbance for 5 years. The MRI showed abnormally high signal intensities on T2-weighted images at bilateral cingulate gyri, temporal lobes and insular regions, mimicking the finding of herpes simplex encephalitis. hyperammonemia was disclosed. Serial work-up led to the diagnosis of adult-onset citrullinemia, deficiency of argininosuccinate synthetase. The clinical symptoms improved after diet control and medication. Follow-up MRI showed resolution of the abnormal signal intensities. The MRI findings of citrullinemia and other urea-cycle defects might be attributed to hyperammonemic encephalopathy, but the manifestations were varied. Similar distribution of the abnormalities in the MRI could be found in some reported cases and indicates probably vulnerable sites of hyperammonemic brain injury.- - - - - - - - - - ranking = 1.25keywords = adult-onset (Clic here for more details about this article) |
5/14. A patient with adult-onset type II citrullinemia on long-term hemodialysis: reversal of clinical symptoms and brain MRI findings.A 40-year-old woman was referred for several episodes of coma lasting from 2 hours to 2 days. She had been on maintenance hemodialysis for polycystic kidney disease for 9 months. Laboratory findings showed high serum levels of ammonia and citrulline, and a diagnosis of adult-onset type II citrullinemia was made. Multiple areas of focal brain edema were shown by magnetic resonance imaging. The clinical manifestations of coma and abnormal behavior were resolved with intensified dialysis (ie, four 5-hour sessions per week with glycerol and continuous ambulatory peritoneal dialysis). No abnormal shadow was present on follow-up magnetic resonance imaging. Such intensified dialysis therapy may be effective for adult-onset type II citrullinemia and may be applicable even in patients who do not have end-stage renal disease if liver transplant is not an option.- - - - - - - - - - ranking = 1.5keywords = adult-onset (Clic here for more details about this article) |
6/14. Recovery from marked altered consciousness in a patient with adult-onset type II citrullinemia diagnosed by dna analysis and treated with a living related partial liver transplantation.A 21-year-old woman was admitted with altered consciousness and hyperammonemia. She was diagnosed as having adult-onset type II citrullinemia (CTLN2) by dna analysis. The patient had mutations of the SLC25A13 gene, which were compound heterozygotes of 851 del 4 and IVS11 1G>A. CTLN2 has a poor prognosis, in spite of various intensive medications, and we performed a living related partial liver transplantation (LRLT). Over a 2-year follow-up, the patient has been well. CTLN2 can be diagnosed by the dna analysis and can be treated by LRLT.- - - - - - - - - - ranking = 1.25keywords = adult-onset (Clic here for more details about this article) |
7/14. Application of mutation analysis for the previously uncertain cases of adult-onset type II citrullinemia (CTLN2) and their clinical profiles.Type II citrullinemia (CTLN2) is characterized by a deficiency of argininosuccinate synthetase (ASS) in the liver. mutation analysis of the SLC25A13 gene, which is responsible for CTLN2, provides a rapid and accurate diagnosis. We describe clinical, biochemical and histologic features of two patients, whose diagnosis was finally made by mutation analysis. They initially presented with symptoms related to hyperammonemia at 16 to 22 years of age. A patient had shown mental retardation and growth failure from early childhood. Laboratory findings including amino acids, were characteristic, such as elevated citrulline, arginine, and lysine concentrations, but definitive diagnosis had not been made. The patients died of liver cirrhosis and hepatoma at 31 and 34 years old, respectively. Fatty change in the hepatocytes was commonly observed in the autopsied specimens. ASS activity was decreased in the liver of both patients, and a concomitant decrease of arginase activity was found in one case. Investigation for the SLC25A13 mutation revealed that one patient was homozygous for IVS11 1G>A, and the other was compound heterozygote (851del4/S225X). Comparison of genetic, enzymatic and biochemical data among various cases of CTLN2 will be essential to understand the real nature of the disease.- - - - - - - - - - ranking = 1keywords = adult-onset (Clic here for more details about this article) |
8/14. Serial diffusion-weighted magnetic resonance imaging in adult-onset citrullinaemia.A 25-year-old Chinese man presented with a 2-year history of recurrent coma. His plasma ammonia level was extremely elevated, with raised citrulline level and absence of argininosuccinic acid. adult-onset citrullinaemia, a condition rarely reported outside the Japanese population, was diagnosed. Serial magnetic resonance (MR) imaging, including diffusion-weighted (DW) studies, showed initial involvement of the insula cortex and cingulate gyrus, changing to a pattern of multiple small lesions in the depths of the cortical sulci. This changing pattern of lesions over time on DW MR imaging has not previously been described in adult-onset citrullinaemia.- - - - - - - - - - ranking = 1.25keywords = adult-onset (Clic here for more details about this article) |
9/14. Hepatocellular carcinoma in a case of adult-onset type II citrullinemia.A 40-year-old woman was admitted with altered consciousness and hyperammonemia after she had delivered her first baby. dna analysis of the citrin gene and enzymatic assay of argininosuccinate synthetase in the liver led to a diagnosis of adult-onset type II citrullinemia (CTLN2). She was also found to have hepatocellular carcinoma (HCC) and underwent palliative surgery consisting of partial liver section of the HCC. Delivery may be a trigger for the development of CTLN2, while certain pathologic conditions associated with citrin gene abnormality are likely to induce hepatocellular carcinoma in patients with this disorder.- - - - - - - - - - ranking = 1.25keywords = adult-onset (Clic here for more details about this article) |
10/14. Feasibility of auxiliary partial orthotopic liver transplantation from living donors for patients with adult-onset type II citrullinemia.More than 20 patients with adult-onset type II citrullinemia have undergone liver transplantation, showing dramatic therapeutic effects. In japan, living donor liver transplantation is the standard technique of liver transplantation because of the rare availability of cadaveric donors. The feasibility of auxiliary partial orthotopic liver transplantation (APOLT) for adult-onset type II citrullinemia to overcome the problem of a small-for-size graft in living donor liver transplantation has not been defined. We recently performed APOLT for patients with type II citrullinemia. Here, we present 2 patients: patient 1 was a 32-year-old man and patient 2 was a 43-year-old woman. Both patients suffered from hepatic encephalopathy, and laboratory data showed highly elevated plasma levels of ammonia and citrulline. In patient 1, the liver graft was obtained from a patient with familial amyloid polyneuropathy as a domino liver transplant. In patient 2, APOLT was performed after graft donation from her husband. The postoperative clinical courses of both patients were uneventful, and the neurological symptoms were completely resolved. The plasma concentrations of ammonia and citrulline normalized rapidly in both patients. APOLT can provide an adequate hepatocyte mass to correct the underlying enzyme deficiency in adult patients with type II citrullinemia. In addition, APOLT can be carried out safely to overcome the limitation of graft volume in living donor liver transplantation.- - - - - - - - - - ranking = 1.5keywords = adult-onset (Clic here for more details about this article) |
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