/mitochondrial DNA depletion syndrome 9

mitochondrial DNA depletion syndrome 9

Rare Disease

MONDO:0009504

Also Known As

succinate-CoA ligase deficiencySUCLG1 mitochondrial DNA depletion syndromemitochondrial DNA depletion syndrome 9mitochondrial DNA depletion syndrome caused by mutation in SUCLG1mitochondrial DNA depletion syndrome type 9MTDPS9fatal infantile lactic acidosis with methylmalonic acidurialactic acidosis congenital infantilelactic acidosis, fatal infantilelactic acidosis, fatal infantile, formerlymitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)

Definition

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.