Journal of Inherited Metabolic Disease

, Volume 31, Issue 2, pp 226–229

Disorders caused by deficiency of succinate-CoA ligase

SSIEM SYMPOSIUM 2007

DOI: 10.1007/s10545-008-0828-7

Cite this article as:
Ostergaard, E. J Inherit Metab Dis (2008) 31: 226. doi:10.1007/s10545-008-0828-7

Summary

Succinate-CoA ligase catalyses the reversible conversion of succinyl-CoA and ADP or GDP to succinate and ATP or GTP. It is a mitochondrial matrix enzyme and at least the ADP-forming enzyme is part of the Krebs cycle. The substrate specificity is determined by the β subunit of succinate-CoA ligase, which is encoded by either SUCLA2 or SUCLG2. In patients with severe hypotonia, deafness and Leigh-like syndrome, mutations have been found in SUCLA2. Mutations have also been reported in SUCLG1, which encodes the α subunit found in both enzymes, in patients with severe infantile acidosis and lactic aciduria. Elevated methylmalonate and methylcitrate and severe mtDNA depletion were found in both disorders. The mtDNA depletion may be explained by the interaction of succinate-CoA ligase with nucleoside diphosphate kinase, which is involved in mitochondrial nucleotide metabolism.

Abbreviations

MMA

methylmalonate

NDPK

nucleoside diphosphate kinase

SUCL

succinate-CoA ligase

A-SUCL

ADP-forming succinate-CoA ligase

G-SUCL

GDP-forming succinate-CoA ligase

Copyright information

© Springer Science+Business Media B.V. 2008

Authors and Affiliations

  1. 1.Department of Clinical Genetics 4062National University Hospital RigshospitaletCopenhagenDenmark

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