第21巻 2025年4月　第2号

■症例報告

偏食・食事摂取不良によるカルニチン欠乏により低血糖発作をきたした基礎疾患のない幼児の2症例
山口　莉世^{1, 2}, 田嶋　華子¹, 上春　光司¹, 栗原　茉杏¹, 橋本　康司¹, 西郡　綾子¹, 早川　潤¹, 浅野　健², 右田　真^1
1日本医科大学武蔵小杉病院小児科
²日本医科大学千葉北総病院小児科

Two Pediatric Cases of Hypoglycemia due to Carnitine Deficiency Caused by Food Selectivity or Reduced Dietary Intake
Rise Yamaguchi^{1, 2}, Hanako Tajima¹, Koji Ueharu¹, Mami Kurihara¹, Koji Hashimoto¹, Ayako Nishigoori¹, Jun Hayakawa¹, Takeshi Asano² and Makoto Migita^1
1)Department of Pediatrics, Nippon Medical School Musashi Kosugi Hospital
²⁾Department of Pediatrics, Nippon Medical School Chiba Hokusoh Hospital

Carnitine is abundant in red meat, especially in lean cuts, and promotes energy metabolism through β-oxidation. Carnitine deficiency can lead to hypoglycemia. Here, we report two cases of severe hypoglycemia resulting from carnitine deficiency.
Case 1: The patient was a 4-year-old boy with a history of selective eating, characterized by a preference for white rice and a dislike of meat and vegetables. He had viral bronchitis, which led to a loss of appetite. He then required emergency admission to the hospital for seizures. On arrival, his blood glucose and free carnitine levels were 15 mg/dL and 6.0 μmol/L, respectively, and carnitine deficiency was diagnosed.
Case 2: The patient was a 4-year-old girl with poor appetite and a history of depressive episodes caused by an inability to finish meals, although she had no history of developmental problems. She had been hospitalized four times previously because of vomiting and poor food intake. When she was admitted for the fifth time, her free carnitine level was 17.5 μmol/L, and carnitine deficiency was diagnosed. Testing revealed no congenital metabolic disorders; therefore, carnitine deficiency was attributed to food selectivity and reduced dietary intake.
Various cases of secondary carnitine deficiency related to tube feeding, valproic acid, and antibacterial agents containing pivoxel have been reported; however, only two reports of carnitine deficiency due to food selectivity have been published, both of which were caused by an extremely unbalanced diet associated with neurodevelopmental disorders. However, when recurrent hypoglycemia is encountered, serum free carnitine levels should be measured and carnitine supplementation be considered even in the absence of a history of neurodevelopmental disorders.

日医大医会誌 2025; 21(2), 181-185

Key words
carnitine deficiency, food selectivity, hypoglycemia, autism

Correspondence to
Rise Yamaguchi, Department of Pediatrics, Nippon Medical School Musashi Kosugi Hospital, 1-383 Kosugi-cho, Nakahara-ku, Kawasaki, Kanagawa 211-8533, Japan
E-mail：y-rise@nms.ac.jp

受付：2024年11月6日　受理：2025年2月14日