SCL19A3 gene mutation with Leigh-like phenotype presentation: a potentially treatable disease

The pathogenicity of variant c.597dup in SLC19A3 and treatability of its phenotype remain unconfirmed

“…We disagree with the statement that Leigh syndrome due to variants in SLC19A3 is potentially treatable. 1 Although the gene encodes the thiamine-transport-2, 2 previously reported pediatric cases did not show a positive treatment response, like the index case. In a 4 months-old patient with infantile Leigh-like syndrome due to the variant c.91dupT in SLC19A3, high doses of thiamine (150mg/d) and biotin (40mg/d) were ineffective.…”

“…We read with interest the article by Freitas et al about a two-month-old male with Leigh syndrome due to the variant c.597dup in SCL19A3. 1 Cerebral MRI showed a symmetrical mixture of cytotoxic and vasogenic oedema in the midbrain, superior vermis, cerebellar hemispheres, genu corporis callosum, internal capsules, thalamus, and basal ganglia (putamen), occipital cystic lesions, and spectroscopy a lactate peak. 1 Despite administration of thiamine and biotin, the patient apparently died.…”

“…1 Cerebral MRI showed a symmetrical mixture of cytotoxic and vasogenic oedema in the midbrain, superior vermis, cerebellar hemispheres, genu corporis callosum, internal capsules, thalamus, and basal ganglia (putamen), occipital cystic lesions, and spectroscopy a lactate peak. 1 Despite administration of thiamine and biotin, the patient apparently died. 1 The study is impressive, but some points require discussion.…”

“…1 Despite administration of thiamine and biotin, the patient apparently died. 1 The study is impressive, but some points require discussion.…”

“…We do not believe that the mutated gene is the "SCL19A3" gene as stated in the title and text. 1 If the authors mean the "SLC19A3" gene, this should be corrected.…”