Open access
Sep 2026
A Pediatric Case of Homocystinuria Due to MTHFR Deficiency with Early Clinical Features Resembling Leigh Encephalopathy
Background: Leigh encephalopathy is one of the most common phenotypes of mitochondrial diseases. It is characterized by progressive psychomotor regression, accompanied by elevated lactate/pyruvate ratios in blood and cerebrospinal fluid (CSF) and lactate on MRS, and symmetric lesions in the bilateral basal ganglia on b...
Tatsunori Itabashi, J. Abe, Midori Nakajima et al.
· Children · 0 citations