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Pediatrics Miscellaneous fce01e81

LEIGH disease is due to the accumulation of

A
Glycogen
B
Pyridoxine
C
Sphingomyelin
D
None of the above
High-Yield Explanation
(A) Glycogen # L eigh's disease or, subacute Necrotizing Encephalopathy> Is characterized by an arrest of psychomotor development, feeding problem, seizures, extraocular palsies, and weakness with hypotonia between one and 2 years of age> The cardinal Laboratory finding is lactic Addenda> Various biochemical abnormalities have been found, all of which lie in the mitrochondrial pathway for converting pyruvate to ATP.

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