LEIGH disease is due to the accumulation of
1. Leigh’s disease or Subacute Necrotizing Encephalopathy
a. Is characterized by an arrest of psychomotor development, feeding problem, seizures, extraocular
b. palsies, and weakness with hypotonia between one and 2 years of age.
c. The cardinal Laboratory finding is lactic Acidemia.
d. Various biochemical abnormalities have been found, all of which lie in the mitochondrial
e. pathway for converting pyruvate to ATP.
f. It is an eg. of Mitochondrial Encephalopathies→that leads to abnormalities of basal ganglia
g. pyramidal sign and Brain stem.
h. Four known genetically determined cause of LEIGH disease -
i. Pyruvate dehydrogenase complex deficiency X-linked transmission
ii. Complex IV COX deficiency AR transmission
iii. Complex I deficiency and
iv. Complex V ATPase deficiency maternal transmission
Now it is clear from above that something abnormities of metabolism of glucose so, the glycogen
since↑Lactate, and ↑ Pyruvate Level
Sphingo myelin deposited in Niemann-Pick disease, due to deficiency of sphingomyelins.