Variants of citrullinaemia.
نویسندگان
چکیده
منابع مشابه
Liver Transplantation in an Adult with Citrullinaemia Type 2
Citrullinaemia is a urea cycle defect that results from a deficiency of the enzyme arginosuccinate synthetase. Type 1 disease is diagnosed in childhood, whereas Type 2 disease is adult onset. We report the outcome of a patient with citrullinemia Type 2 who received a liver transplant at our center and the implications of this diagnosis in liver transplantation.
متن کاملMonitoring of the genetic health of cattle in the Czech Republic
A screening was carried out for CVM, BLAD, DUMPS, bovine citrullinaemia, glycogen storage disease V, and Robertsonian translocations in the cattle population of the Czech Republic. In 406 Holstein sires and 146 Czech Pied (Czech Simmental) sires entering the AI programme in the Czech Republic from 2003–2005, no heterozygous sire for DUMPS, bovine citrullinaemia and BLAD was found. The heterozyg...
متن کاملTreatment by haemodialysis in a case of adult-onset (type II) citrullinaemia in a Chinese patient with pulmonary tuberculosis.
A 52-year-old male, with a history of delayed childhood development and recent pulmonary tuberculosis, presented to a regional hospital for acute onset of confusion 2 weeks after the start of antituberculous medications. The clinical course was later complicated by repeated episodes of seizure. Initial assessment showed that his Glasgow coma scale was 13/15. He had generalized brisk reflexes an...
متن کاملChronic vomiting in a case of citrullinaemia detected after treatment by total parenteral nutrition.
We report a case of a 56 year old woman who presented with a long history of chronic attacks of vomiting. On admission to hospital she was cachectic, and attempted parenteral nutrition induced coma. The illness was found to be due to citrullinaemia, a metabolic disorder of the urea cycle. Our patient is the oldest with this disorder so far described in the literature. The main points of the cas...
متن کاملPolymorphism in Argininosuccinate Synthase Gene in Indian Holstein
*Corresponding Author Rajesh. K. Patel [email protected] The present study investigated the occurrence of an autosomal recessive genetic disease, Bovine Citrullinaemia caused by mutation in Argininosuccinate Synthase (ASS) gene, in Indian Holstein cattle. The Polymerase chain reactionRestriction fragment length polymorphism (PCR-RFLP) analysis was performed on a group of 120 Holstein bulls to...
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عنوان ژورنال:
- Archives of disease in childhood
دوره 48 8 شماره
صفحات -
تاریخ انتشار 1973