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pyruvate dehydrogenase complex deficiency disease/ataxie
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Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia.
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OBJECTIVE
The aim of this study is to report and emphasize unusual presentations of pyruvate dehydrogenase (PDH) deficiency (OMIM 312170).
METHODS
PDH activity and PDHA1 gene were studied in two siblings presenting with intermittent ataxia in childhood. Similar presentations in reported
Recurrent muscle weakness and ataxia in thiamine-responsive pyruvate dehydrogenase complex deficiency.
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[Intermittent ataxia with hyperpyruvicemia and hyperalaninuria (pyruvate decarboxylase deficiency)].
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Intermittent ataxia with pyruvate-decarboxylase deficiency.
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Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.
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Pyruvate dehydrogenase deficiency is a major cause of primary lactic acidosis and neurological dysfunction in infancy and early childhood. Most cases are caused by mutations in the X-linked gene for the E1alpha subunit of the complex. Mutations in DLAT, the gene encoding dihydrolipoamide
Ataxia.
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The approach to the child with ataxia requires a detailed history and careful general and neurological examination as well as selected blood work and brain imaging and increasingly available genetic testing for inherited ataxias that usually have an episodic or progressive presentation. The
Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency.
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The pyruvate dehydrogenase (PDH) complex is a mitochondrial multienzyme that catalyses the irreversible oxidative decarboxylation of pyruvate to acetyl-CoA. We report four novel PDHA1 mutations in patients with pyruvate dehydrogenase deficiency. Analysis of PDH activity showed decreased activity in
Pyruvate dehydrogenase deficiency: molecular basis for intrafamilial heterogeneity.
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Two half-brothers and their mother had symptomatic pyruvate dehydrogenase complex deficiency. The infants had severe congenital lactic acidosis, seizures, and apneic spells and died at the ages 3 and 4 months. The mother was less symptomatic with mental retardation, truncal ataxia, and dysarthria.
Central hypoventilation syndrome in pyruvate dehydrogenase complex deficiency.
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The presentation and treatment of a central hypoventilation syndrome in a boy with pyruvate dehydrogenase complex (PDHC) deficiency are reported. Dephosphorylated PDHC was assayed in disrupted fibroblasts after pretreatment with dichloroacetate, a pyruvate dehydrogenase kinase inhibitor. Maximal
Pyruvate dehydrogenase deficiency and epilepsy.
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The pyruvate dehydrogenase complex (PDHc) is a mitochondrial matrix multienzyme complex that provides the link between glycolysis and the tricarboxylic acid (TCA) cycle by catalyzing the conversion of pyruvate into acetyl-CoA. PDHc deficiency is one of the commoner metabolic disorders of lactic
Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next-generation sequencing.
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OBJECTIVE
To characterize the mutations in mitochondrial DNA (mtDNA) and mitochondrion-related nuclear genes (nDNA), and clinical features in Chinese patients with mitochondrial ataxia.
METHODS
Targeted next-generation sequencing (NGS) technology was performed to screen the whole mtDNA sequence and
Ketonic diet in the management of pyruvate dehydrogenase deficiency.
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Two brothers, aged 11 years 6 months and 2 years 3 months, with psychomotor and growth retardation, episodes of weakness, ataxia, ophthalmoplegia, and elevated levels of blood pyruvate were shown to have a deficiency in the pyruvate dehydrogenase complex (PDH). When they ate a diet high enough in
Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes.
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Our aime was to study the short- and long-term effects of ketogenic diet on the disease course and disease-related outcomes in patients with pyruvate dehydrogenase complex deficiency, the metabolic factors implicated in treatment outcomes, and potential safety and compliance issues.
Pediatric
A possible mechanism for selective cerebellar damage in partial pyruvate dehydrogenase deficiency.
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In patients with partial deficiencies of pyruvate dehydrogenase, cerebellar ataxia has been the most prominent and sometimes the only neurologic abnormality. It is not clear how this generalized enzyme deficiency (with activity 15 to 30 percent of normal in several tissues) might lead to clinical
Thiamine dependency in a patient with congenital lacticacidaemia due to pyruvate dehydrogenase deficiency.
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A patient with congenital lactic acidosis, muscular hypotonia and severe ataxia is reported. The aetiology of his disease was found to be a deficiency of pyruvate dehydrogenase (E.C. 4.1.1.1.). Thiamine treatment (1.8 g/day) was successful in correcting biochemical and clinical symptoms. The
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