Urea cycle disorder in C3H-H-2° mice with juvenile steatosis of viscera
نویسندگان
چکیده
منابع مشابه
Urea Cycle Disorder
RATIONALE. With no effective clearance system for ammonia, levels increase rapidly, resulting in cerebral edema with severe neurologic compromise. Dialysis is the only means of rapid removal of ammonia from blood in acute neonatal hyperammonemia, and hemodialysis is preferred over peritoneal dialysis because it is much more effective. If hemodialysis is not available, hemofiltration can be used...
متن کاملHyperammonemia from a Urea Cycle Disorder Presenting in Adulthood
OBJECTIVE: The aim of this report is to describe a patient with late presentation of carbamyl phosphate synthetase I (CPS-I, EC 6.3.4.16) deficiency, a rare urea cycle deficiency, and to facilitate recognition and treatment of patients presenting with encephalopathy and hyperammonemia in a critical care setting. DESIGN: Case Report. SETTING: Intensive care unit of Saint Mary’s Hospital, Mayo Cl...
متن کاملNonhepatic hyperammonemic encephalopathy due to undiagnosed urea cycle disorder.
Ornithine transcarbamoylase deficiency is the most common inherited urea cycle disorder. In adults, its phenotypes are diverse. In asymptomatic patients with late presentations, symptom onset is often associated with a precipitating factor. We present a case of a woman with urea cycle disorder diagnosed after an acute peptic ulcer bleed and fasting.
متن کاملAutistic-like findings associated with a urea cycle disorder in a 4-year-old girl.
A 4-year-old girl presented at our clinic with autistic-like symptoms, aggressivity and occasional hyperactivity. She had no history of neurologic or physical symptoms. Her condition was diagnosed as pervasive developmental disorder not otherwise specified, according to the criteria of the Diagnostic and Statistical Manual of Mental Disorders, fourth edition (DSM-IV). She received pharmacologic...
متن کاملIsolated hepatocyte transplantation in an infant with a severe urea cycle disorder.
OBJECTIVE Transplantation of isolated hepatocytes in animal models has been shown to correct inborn errors of metabolism. Based on these studies and our experience with hepatocyte transplantation in a child with Crigler-Najjar syndrome, isolated hepatocyte transplantation was performed to attempt metabolic reconstitution in a male infant with severe ornithine transcarbamylase (OTC) deficiency. ...
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ژورنال
عنوان ژورنال: FEBS Letters
سال: 1990
ISSN: 0014-5793
DOI: 10.1016/0014-5793(90)80081-s