Anaesthesia and pyruvate dehydrogenase deficiency

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...

Heterogeneous 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...

Pyruvate 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...

Pyruvate 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 ...

Mutation Analysis of the Pyruvate Dehydrogenase Exa Gene in Eight Patients With a Pyruvate Dehydrogenase Complex Deficiency