Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region
نویسندگان
چکیده
منابع مشابه
Encephalopathy caused by thiamine deficiency.
513 July 2015, Vol. 105, No. 7 Encephalopathy caused by thiamine deficiency To the Editor: Antel et al.[1] have drawn attention to the acute encephalopathy caused by thiamine deficiency in non-alcohol-related settings. I would like to highlight a different clinical presentation that ought to be readily recognised as a possible manifestation of this deficiency, namely rapidly progressive leg wea...
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The growth of a thiamine pyrophosphate auxotroph of Escherichi coli was inhibited by either thiamine or thiamine monophosphate, and the growth of a thiamine monophosphate auxotroph was inhibited by thiamine. The thiamine pyrophosphate-dependent oxidation of pyruvate was inhibited by thiamine with whole cells of the thiamine pyrophosphate auxotroph but not with cell extracts prepared from the sa...
متن کاملA Korean Female Patient with Thiamine-responsive Pyruvate Dehydrogenase Complex Deficiency Due to a Novel Point Mutation (Y161C)in the PDHA1 Gene
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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Introduction: The Thiamine Transporter gene SLC19A2 is the only gene known to be associated with TRMA. This syndrome is a trial clinical characterized by megaloblastic anemia, nonautoimmune diabetes mellitus and sensory-neural hearing loss. Methods: Described here are three children from consanguineous Iranian families with thiamine – responsive megaloblastic anemia (TRMA) or Rogers' syndrome....
متن کاملPYRUVATE 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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ژورنال
عنوان ژورنال: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
سال: 2002
ISSN: 0925-4439
DOI: 10.1016/s0925-4439(02)00142-4