Thiamine Responsive Pyruvate Dehydrogenase Deficiency
نویسندگان
چکیده
منابع مشابه
PYRUVATE AND a-KETOGLUTARATE METABOLISM IN THIAMINE DEFICIENCY*
One obvious explanation for the effect of high fat diets in lowering the requirement for thiamine has been that fat metabolism does not require thiamine, while carbohydrate metabolism does. This explanation finds considerable support in one of the known functions of thiamine pyrophosphate. According to current theory, carbohydrate is oxidized to pyruvate, and pyruvate must be decarboxylated for...
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A two-year-old, intact female Sussex spaniel was presented with signs of exercise intolerance. Pre- and post-exercise serum lactate and pyruvate concentrations and urinary organic acid screening supported a diagnosis of pyruvate dehydrogenase deficiency, as previously reported in this breed. Dietary therapy was initiated for six months, during which time there was no reported clinical deteriora...
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Pyruvate dehydrogenase complex (PDHC) deficiency is mostly due to mutations in the X-linked E1alpha subunit gene (PDHA1). Some of the patients with PDHC deficiency showed clinical improvements with thiamine treatment. We report the results of biochemical and molecular analysis in a female patient with lactic acidemia. The PDHC activity was assayed at different concentrations of thiamine pyropho...
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thiamine responsive megaloblastic anemia in didmoa (wolfram) syndrome has an autosomal- recessive mode of inheritance . megaloblastic anemia and sideroblastic anemia is accompanied by diabetes insipidus (di), diabetes mellitus (dm) ,optic atrophy (oa) and deafness (d). neutropenia and thrombocytopenia are also present. we report a 7 month old girl with congenital macrocytic anemia a rare clinic...
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This report describes a female child with thiamine responsive megaloblastic anemia syndrome (Rogers syndrome), presenting with anemia and diabetes mellitus responding to thiamine. She also had retinitis pigmentosa. The anemia improved and blood sugar was controlled with daily oral thiamine. Previously unreported olfactory abnormalities, as described in Wolfram syndrome, were also present in our...
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ژورنال
عنوان ژورنال: Journal of Nutritional Science and Vitaminology
سال: 1992
ISSN: 0301-4800,1881-7742
DOI: 10.3177/jnsv.38.special_585