Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency
نویسندگان
چکیده
منابع مشابه
Pyruvate dehydrogenase deficiency in a Sussex spaniel.
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...
متن کاملFetal anaemia due to pyruvate kinase deficiency.
Pyruvate kinase deficiency was diagnosed in an infant by umbilical vessel sampling at 30 weeks' gestation. Although three previous hydropic siblings had been stillborn or died in the neonatal period, this infant survived with transfusion dependent haemolytic anaemia. Prompt fetal diagnosis of pyruvate kinase deficiency is feasible and allows better management of hydrops fetalis due to this diso...
متن کاملHeterogeneous expression of protein and mRNA in pyruvate dehydrogenase deficiency.
Deficiency of pyruvate dehydrogenase [pyruvate:lipoamide 2-oxidoreductase (decarboxylating and acceptor-acetylating), EC 1.2.4.1], the first component of the pyruvate dehydrogenase complex, is associated with lactic acidosis and central nervous system dysfunction. Using both specific antibodies to pyruvate dehydrogenase and cDNAs coding for its two alpha and beta subunits, we characterized pyru...
متن کاملPyruvate dehydrogenase kinase activity of pig heart pyruvate dehydrogenase (E1 component of pyruvate dehydrogenase complex).
The pyruvate dehydrogenase (E1) and acetyltransferase (E2) components of pig heart and ox kidney pyruvate dehydrogenase (PDH) complex were separated and purified. The E1 component was phosphorylated (alpha-chain) and inactivated by MgATP. Phosphorylation was mainly confined to site 1. Addition of E2 accelerated phosphorylation of all three sites in E1 alpha and inactivation of E1. On the basis ...
متن کاملPyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia.
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 PDH-deficient patients were searched for using the Medline database. RESULTS Both patients had PDH defici...
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ژورنال
عنوان ژورنال: Journal of Neuropathology & Experimental Neurology
سال: 2016
ISSN: 0022-3069,1554-6578
DOI: 10.1093/jnen/nlv022