Carnitine Palmitoyl Transferase-1 Deficiency with Hepatic Encephalopathy in an Adolescent
نویسندگان
چکیده
منابع مشابه
Bone 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 کاملFenofibrate Therapy in Carnitine Palmitoyl Transferase Type 2 Deficiency
Bezafibrate therapy has been shown to improve beta-oxidation of fatty acids and to reduce episodes of rhabdomyolysis in patients with carnitine palmitoyltransferase type-2 (CPT2) deficiency. We report the efficacy of fenofibrate in a patient with CPT2 deficiency, in whom beta-oxidation was improved but an episode of rhabdomyolysis nevertheless occurred. This suggests additional methods to avoid...
متن کاملCarnitine palmitoyl transferase deficiency with an atypical presentation and ultrastructural mitochondrial abnormalities.
A case of carnitine palmitoyl transferase deficiency presenting in a 72 year old woman with the clinical picture of ophthalmoplegia plus other muscle weakness is reported. Histological and ultrastructural examination showed the features of a mitochondrial myopathy.
متن کاملBiochemical Evidence for Reduced Carnitine Palmitoyl Transferase 1 (CPT-1) Activity in Type 1 Diabetes Mellitus
Background: Type 1 diabetes mellitus is reportedly characterized by deficiencies of plasma total and free carnitine. Several inherited defects in fatty acid oxidation are associated with carnitine deficiency and with recurrent hypoglycemia. Hypoglycemia continues to be the major limiting factor in the management of type 1 diabetes. Herein, we sought to identify a subset of patients with abnorma...
متن کاملSystemic primary carnitine deficiency with hypoglycemic encephalopathy
Acute hypoglycemia in children is not an uncommon disease that can be encountered in the Emergency Department. Most cases of childhood hypoglycemia are caused by ketotic hypoglycemia due to missed meals. Often, hypoketotic hypoglycemia can also occur, which suggests hyperinsulinemia or a defect in fatty acid oxidation. Carnitine is essential for long chain fatty acids transfer into mitochondria...
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: Journal of Case Reports
سال: 2016
ISSN: 2231-6809
DOI: 10.17659/01.2016.0114