日本医科大学医学会雑誌
Online ISSN : 1880-2877
Print ISSN : 1349-8975
ISSN-L : 1349-8975
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 莉世田嶋 華子上春 光司栗原 茉杏橋本 康司西郡 綾子早川 潤浅野 健右田 真
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2025 年 21 巻 2 号 p. 181-185

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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.

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