Pyruvate dehydrogenase complex deficiency and absence of subunit X

L. De Meirleir, Willy Lissens, C Benelli, C Marsac, J De Klerk, J Scholte, O Van Diggelen, W Kleijer, Sara Seneca, Ingeborg Liebaers

Research output: Contribution to journalArticlepeer-review

16 Citations (Scopus)

Abstract

The pyruvate dehydrogenase complex (PDHc) is a multienzyme complex consisting of three catalytic and two regulatory enzymes, as well as a less well defined subunit called protein X. PDHc deficiency is a common cause of congenital lactic acidosis. Most patients with PDH deficiency have a mutation in the alpha chain of the PDH E1 enzyme. Very few patients have been described in whom the basic defect of a PDH deficiency is situated in the X protein. We studied a boy with severe lactic acidosis and developmental delay in whom a deficiency of PDH activity led to further investigations. Immunochemical analysis with anti-PDHc antibodies demonstrated an absence of the X component. This report is the fourth family in which an abnormal protein X has been found. In cases with PDH deficiency where no mutation of the PDHE1 alpha gene is found, further investigations by means of immunoblotting with specific antibodies against the different subunits should be performed.
Original languageEnglish
Pages (from-to)9-16
Number of pages8
JournalJ Inherit Metab Dis
Volume21
Issue numberFebruary
Publication statusPublished - Feb 1998

Keywords

  • pyruvate deficiency
  • subunit X
  • PDHc

Fingerprint

Dive into the research topics of 'Pyruvate dehydrogenase complex deficiency and absence of subunit X'. Together they form a unique fingerprint.

Cite this