mitochondrial DNA depletion syndrome type 9(redirected from lactic acidosis, fatal infantile)
mitochondrial DNA depletion syndrome type 9A severe autosomal recessive disorder (OMIM:245400) caused by mitochondrial dysfunction and characterised by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, excretion of methylmalonic acid and possibly death in infancy.
Caused by defects of SUCLG1, which encodes the alpha subunit of succinate CoA ligase that catalyses the ATP- or GTP-dependent ligation of succinate and CoA to form succinyl-CoA.
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