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.
MONDO:0006040
lactic acidosis
is_a
MONDO:0016796
mitochondrial DNA depletion syndrome, encephalomyopathic form
is_a
MTDPS9
related
SUCLG1 mitochondrial DNA depletion syndrome
exact
lactic acidosis congenital infantile
related
lactic acidosis, fatal infantile
related
mitochondrial DNA depletion syndrome 9
exact
mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
related
mitochondrial DNA depletion syndrome caused by mutation in SUCLG1
exact
mitochondrial DNA depletion syndrome type 9
exact
succinate-CoA ligase deficiency
broad
SPAC16E8.17c