Mitochondrial DNA depletion syndrome 9

Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.

Also known as: succinate-CoA ligase deficiency, SUCLG1 mitochondrial DNA depletion syndrome, mitochondrial DNA depletion syndrome 9, mitochondrial DNA depletion syndrome caused by mutation in SUCLG1, mitochondrial DNA depletion syndrome type 9, MTDPS9, fatal infantile lactic acidosis with methylmalonic aciduria, lactic acidosis congenital infantile

13 clinical trials for this condition and its sub-types, 0 tagged with Mitochondrial DNA depletion syndrome 9 itself.