Carnitine palmitoyl transferase deficiency with an atypical presentation and ultrastructural mitochondrial abnormalities.
نویسندگان
چکیده
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.
منابع مشابه
Biochemical 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 کاملLong-term follow-up of bezafibrate treatment in patients with the myopathic form of carnitine palmitoyltransferase 2 deficiency.
Carnitine palmitoyltransferase 2 (CPT2) deficiency is a rare mitochondrial fatty acid oxidation (FAO) disorder characterized by myalgia, exercise intolerance, and rhabdomyolysis. We evaluate the efficacy of bezafibrate (BZ), a hypolipidemic drug, as a treatment for this form of CPT2 deficiency. A pilot trial was conducted with BZ in six patients for 6 months. There was a follow-up period of 3 y...
متن کاملAn atypical presentation of ACAD9 deficiency: Diagnosis by whole exome sequencing broadens the phenotypic spectrum and alters treatment approach
Acyl-CoA dehydrogenase 9 (ACAD9), linked to chromosome 3q21.3, is one of a family of multimeric mitochondrial flavoenzymes that catalyze the degradation of fatty acyl-CoA from the carnitine shuttle via β-oxidation (He et al. 2007). ACAD9, specifically, is implicated in the processing of palmitoyl-CoA and long-chain unsaturated substrates, but unlike other acyl-CoA dehydrogenases (ACADs), it has...
متن کاملCarnitine palmitoyltransferase in cardiac ischemia. A potential site for altered fatty acid metabolism.
The sensitivity of carnitine palmitoyl coenzyme A (CoA) transferase I to inhibition of its activity by malonyl-CoA is progressively reduced in mitochondria isolated from ischemic cardiac cells as blood flow decreases to 30% or less of the preocclusion flow. The activity of carnitine palmitoyl-CoA transferase I in mitochondria isolated from nonischemic cardiac cells demonstrates incomplete inhib...
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 کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal of neurology, neurosurgery, and psychiatry
دوره 50 8 شماره
صفحات -
تاریخ انتشار 1987