The first patients described with SUCLG1 mutations had a very severe phenotype at birth with death during the first days of life. Rouzier et al. (2010) described a patient who presented with severe hypotonia and lactic acidosis at birth. He developed psychomotor development with recurrent episodes of acidosis leading to death at one year of age. Brain imaging in most patients show basal ganglia involvement closely resembling Leigh syndrome.
SUCLG1