Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia

The Journal of Clinical Investigation
B H RobinsonP W Stacpoole

Abstract

Three patients with chronic lacticacidemia and deficiency of the pyruvate dehydrogenase complex demonstrated in cultured skin fibroblasts showed abnormalities on Western blotting with anti-pyruvate dehydrogenase complex antiserum which were not located in the E1 (alpha and beta) component of the complex. One of these patients had an enzymatically demonstrable deficiency in the E2 dihydrolipoyl transacetylase segment of the complex and very low observable E2 protein component on Western blotting of fibroblast proteins. The other two patients had abnormalities observable in the X component but no observable reduction in either E1, E2, or E3 enzymatic activities. One patient appeared to have a missing X component while the other had two distinct bands where X should be on Western blotting of fibroblast proteins. All three patients appeared to have severe clinical sequelae resulting from these defects. This is the first time that defects in either the E2 or the X component of the pyruvate dehydrogenase complex have been observed in the human population.

References

Jan 1, 1989·Annals of the New York Academy of Sciences·B H RobinsonH Willard
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May 1, 1981·The Journal of Clinical Investigation·K F SheuM F Utter

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Citations

Jan 1, 1996·Journal of Inherited Metabolic Disease·B H RobinsonM Ling
Jan 1, 1992·Journal of Inherited Metabolic Disease·B MerineroM Ugarte
Jan 1, 1991·Journal of Inherited Metabolic Disease·L L HansenH H Dahl
Jul 31, 1992·Clinica Chimica Acta; International Journal of Clinical Chemistry·M ItoY Kuroda
Oct 20, 1993·Biochimica Et Biophysica Acta·B H Robinson
Sep 5, 2002·Molecular Genetics and Metabolism·Runu DeyCecile Marsac
Apr 9, 2004·Proceedings of the National Academy of Sciences of the United States of America·Michael R TaylorSusan E Brockerhoff
Mar 13, 1998·Archives of Disease in Childhood·P W StacpooleD S Kerr
Nov 1, 1994·Journal of Medical Genetics·G K BrownR M Brown
Dec 24, 2013·Cellular and Molecular Life Sciences : CMLS·Lawrence R GrayEric B Taylor
Jan 1, 1993·Brain & Development·D C De Vivo
Feb 13, 2016·Journal of Neuropathology and Experimental Neurology·Nathalie PirotAnnie Laquerrière
Jul 7, 2012·European Journal of Medical Genetics·Mariam TajirMichèle Brivet
Jan 5, 2002·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Richard E NeibergerPeter W Stacpoole
Mar 28, 2006·Annals of Neurology·Manuel SchiffHélène Ogier de Baulny
Oct 31, 2014·Annals of Clinical and Translational Neurology·Rosa FerrieroNicola Brunetti-Pierri
May 27, 2006·Mitochondrion·Kristen BerendzenPeter W Stacpoole
Feb 9, 2019·Journal of Inherited Metabolic Disease·Alfonso Oyarzabal, Isaac Marin-Valencia
Oct 3, 2014·Genome Biology and Evolution·João Henrique Frota CavalcantiWagner L Araújo
Mar 21, 1998·Journal of Inherited Metabolic Disease·L De MeirleirI Liebaers
Apr 1, 2006·Molecular and Cellular Endocrinology·M C MajB H Robinson
May 20, 1999·Seminars in Perinatology·I Tein

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