Abstract

AbstractBackgroundThiamine deficiency can cause a broad range of symptoms affecting the central nervous system. Although the precise mechanisms underlying these effects remain unclear, research suggests that mitochondrial dysfunction is involved. Some studies have reported that growth differentiation factor 15 (GDF15) is a useful biomarker for diagnosing mitochondrial disorder.AimIn the present study, we investigated the clinical associations between GDF15 and thiamine deficiency.MethodsWe measured serum GDF15 levels in four patients with thiamine deficiency, 28 healthy controls, five patients with mitochondrial disorder, three patients with neuromyelitis optica spectrum disorder, and one patient who presented with thiamine deficiency‐like symptoms despite normal blood levels of thiamine. GDF15 concentrations were measured via enzyme‐linked immunosorbent assay. Serum GDF15 levels were evaluated in consideration of clinical parameters including age, sex, and body mass index.ResultsMean GDF15 levels were significantly higher in the thiamine deficiency (3990.5 pg/mL) and mitochondrial disorder groups (3363.2 pg/mL) than in the healthy control group (1062.0 pg/mL). Multiple regression analysis revealed that serum GDF15 levels were significantly associated with age and cognitive function in the healthy control group. The patient with thiamine deficiency‐like symptoms exhibited elevated serum GDF15 levels. In one patient with thiamine deficiency, GDF15 levels gradually decreased after initiating thiamine supplementation.ConclusionThe present study demonstrates that serum GDF15 levels may be useful in the diagnosis and evaluation of patients with various manifestations of thiamine deficiency.

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