Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease
2014
Sir, The research articles ‘
Exome sequencingreveals mutated
SLC19A3in patients with an early-infantile, lethal encephalopathy’ by Kevelam et al. (2013) and ‘
Exome sequencingreveals a novel Moroccan
founder mutationin
SLC19A3as a new cause of early-childhood fatal Leigh syndrome’ by Gerards et al. (2013) describe a novel disease entity of an infantile Leigh-like disorder caused by
SLC19A3mutations. In the study of Gerards et al. (2013) only two children out of 10 survived early childhood. These patients received different vitamins including
thiamineand one child was treated with additional
biotinduring later clinical course. However, important information such as dosages and exact time point of the start of treatment has not been provided. Moreover, outcome in these patients was unfavourable. In the study of Kevelam et al. (2013) all patients died during the first years of life. No
thiaminewas given to these children.
SLC19A3encodes a
thiamine transporter(hTHTR2), which is essential for cerebral
thiaminemetabolism (Zeng et al. , 2005). Impaired hTHTR2 activity due to
SLC19A3mutations is known to cause
biotin-responsive
basal ganglia disease(BBGD; OMIM 607483), which is a childhood-onset disorder characterized by episodes with encephalopathy and subsequent neurological deterioration (Zeng et al. , 2005; Tabarki et al. , 2013). Untreated, this disease may be fatal but supplementation of
biotinand
thiamine(both 10–15 mg/kg/day) is highly effective and prevents further disease progression (Distelmaier et al. , 2013). Based on this knowledge, one might expect …
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