Biochemical studies in mitochondrial encephalomyopathy.
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چکیده
منابع مشابه
Biochemical studies in mitochondrial encephalomyopathy.
The alpha-keto acid dehydrogenase complex and its component enzymes, lactate dehydrogenase, pyruvate carboxylase, cytochrome c oxidase, succinate-cytochrome c reductase, NADH-cytochrome c reductase, and the concentration of cytochromes and enzymes of beta-oxidation in muscle from a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes were studied and no ...
متن کاملMitochondrial neurogastrointestinal encephalomyopathy (MNGIE): biochemical features and therapeutic approaches.
Over the last 15 years, important research has expanded our knowledge of the clinical, molecular genetic, and biochemical features of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). The characterization of mitochondrial involvement in this disorder and the seminal determination of its genetic cause, have opened new possibilities for more detailed and deeper studies on the pathome...
متن کاملDefinitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays.
BACKGROUND Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is caused by mutations in the gene encoding thymidine phosphorylase (TP). The clinical manifestations of MNGIE are recognizable and homogeneous, but in the early stages, the disease is often misdiagnosed. This study assesses the reliability of biochemical assays to diagnose MNGIE. METHODS We studied 180 patients with cli...
متن کاملmitochondrial neurogastrointestinal encephalomyopathy (mngie)
mitochondrial neurogastrointestinal encephalo-myopathy (mngie) is a rare autosomal recessive disease caused by thymidine phosphorylase (tp) gene mutation. here we report a patient with mngie in whom sensorimotor polyneuropathy was the first presenting symptom and had a fluctuating course. this 26-year-old female patient developed acute-onset demyelinating polyneuropathy from the age of 6 with t...
متن کاملNeurobiology of Disease Mitochondrial Encephalomyopathy in Drosophila
Alicia M. Celotto,1,2 Adam C. Frank,1,2 Steven W. McGrath,1,2 Tim Fergestad,3 Wayne A. Van Voorhies,5 Karolyn F. Buttle,4 Carmen A. Mannella,4 and Michael J. Palladino1,2 1Department of Pharmacology and 2Pittsburgh Institute for Neurodegenerative Diseases, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15261, 3Laboratory of Genetics, University of Wisconsin–Madison, Madis...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1987
ISSN: 0022-3050
DOI: 10.1136/jnnp.50.10.1348