Neonatal hyperammonemia associated with carnitine deficiency.
نویسندگان
چکیده
منابع مشابه
Hemodialysis for hyperammonemia associated with ornithine transcarbamylase deficiency
Acute hyperammonemia is a medical emergency requiring rapid recognition and treatment to prevent devastating neurologic sequelae. Its varying etiologies include primary hepatic failure, drug toxicity, infection, and inherited disorders of metabolism. Ornithine transcarbamylase (OTC) deficiency is the most common inherited urea cycle disorder and can result in hyperammonemic encephalopathy and c...
متن کاملBone scinitigraphy in rhabdomyolysis associated with carnitine palmitoyl transferase deficiency
A 15-year-old athletic male was hospitalized with back pain and myalgia after standing out in the cold weather watching a soccer match. Hewas passing dark red urine on admission. He took no prescribed or illicit medications. Family history and physical examination was unremarkable. Laboratory analysis revealed a creatine kinase of 113 542 U/L and normal renal function. A diagnosis of rhabdomyol...
متن کاملCarnitine deficiency presenting with encephalopathy and hyperammonemia in a patient receiving chronic enteral tube feeding: a case report
INTRODUCTION Carnitine is an essential cofactor in mitochondrial fatty acid oxidation. Carnitine deficiency results in accumulation of non-oxidized fatty acyl-coenzyme A molecules, and this inhibits intra-mitochondrial degradation of ammonia. Hyperammonemia may lead to encephalopathy. This scenario has been previously reported. CASE PRESENTATION We report the case of a 47-year-old Caucasian m...
متن کاملHyperammonemia is associated with generalized convulsion.
PURPOSE The possibility that hyperammonemia may be associated with generalized convulsion (GC) was retrospectively investigated. METHODS Subjects comprised 17 patients with GC who were transported to our department and underwent analysis of serum biochemistry, including ammonia, since October 2004. RESULTS Causes of convulsion included intracranial lesions (n=8), endocrine diseases (n=2), e...
متن کاملHyperammonemia Associated with Valproic Acid Concentrations
Valproic acid, a branched short-chain fatty acid, has numerous action mechanisms which turn it into a broad spectrum anticonvulsant drug and make its use possible in some other pathologies such as bipolar disorder. It is extensively metabolized in liver, representing β -oxidation in the mitochondria one of its main metabolic route (40%). Carnitine is responsible for its entry into the mitochond...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: The Tohoku Journal of Experimental Medicine
سال: 1989
ISSN: 0040-8727,1349-3329
DOI: 10.1620/tjem.158.317