2019 Volume 3 Issue 1 Pages 43-47
Together with 2-methyl-3-hydroxybutyrylcarnitine, 2-methylacetoacetylcarnitine has been newly identified in significantly increased amounts in serum and dried blood spot of patients with β-ketothiolase deficiency. In patients with HSD10 disease, however, the amounts of 2-methylacetoacetylcarnitine were considerably low as compared with those in patients with β-ketothiolase deficiency, and the decreased ratio of 2-methylacetoacetylcarnitine to 2-methyl-3-hydroxybutyrylcarnitine in dried blood spot could be an additional index to discriminate HSD10 disease from β-ketothiolase deficiency.