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As far as my knowledge, there are no academic guidelines for diagnosis and treatment of carnitine deficiency in the world except Japan, namely, Guideline for the Diagnosis and Treatment of Carnitine Deficiency 2016, that was published on the website of the Japan Pediatric Society in 2016 (it was revised in 2018). Japan was a kind of “underdeveloped country” for carnitine deficiency until 2011. The background of why this Guideline was established and the outline of this Guideline are explained in this chapter. Carnitine measurement in this Guideline is based on blood carnitine 2 fractions testing using the enzyme cycling method that is unfortunately not used outside of Japan but very useful to diagnose carnitine deficiency and insufficiency in daily practice. A thorough understanding of this Guideline might be very useful for clinicians and researchers in the world.

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Guidelines for the Diagnosis and Treatment of Carnitine Deficiency

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  • 发表日期：

    2026年

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  • Natsuki Nakayama

摘要

As far as my knowledge, there are no academic guidelines for diagnosis and treatment of carnitine deficiency in the world except Japan, namely, Guideline for the Diagnosis and Treatment of Carnitine Deficiency 2016, that was published on the website of the Japan Pediatric Society in 2016 (it was revised in 2018). Japan was a kind of “underdeveloped country” for carnitine deficiency until 2011. The background of why this Guideline was established and the outline of this Guideline are explained in this chapter. Carnitine measurement in this Guideline is based on blood carnitine 2 fractions testing using the enzyme cycling method that is unfortunately not used outside of Japan but very useful to diagnose carnitine deficiency and insufficiency in daily practice. A thorough understanding of this Guideline might be very useful for clinicians and researchers in the world.