İnci Aslı, Aktaş Emine, Cengiz Ergin Filiz Başak, Okur İlyas, Biberoğlu Gürsel, Ezgü Fatih Süheyl, Tümer Leyla
Department of Pediatric Metabolism and Nutrition, Gazi University School of Medicine, Ankara, Turkey.
JPEN J Parenter Enteral Nutr. 2021 Nov;45(8):1788-1792. doi: 10.1002/jpen.2121. Epub 2021 May 25.
The ketogenic diet (KD) is a low-carbohydrate, high-fat diet that has been used as an effective nonpharmacological treatment in many neurological and metabolic disorders for a long time. The effectiveness of the KD is revealed in mitochondrial disorders, mainly in pyruvate dehydrogenase deficiency.
A 4-year-old girl who was diagnosed with an F-box and leucine-rich repeat protein 4 (FBXL4) gene mutation was hospitalized with sepsis. She was first given standard parenteral nutrition (PN) because of gastrointestinal problems. During the disease course, lactic acidosis became prominent and did not respond to pharmacological treatment; standard PN was gradually switched to parenteral KD, and lactate levels decreased after parenteral KD. The patient was discharged with an enteral KD.
This is the first case of mitochondrial depletion syndrome effectively treated with parenteral KD for lactic acidosis.
生酮饮食（KD）是一种低碳水化合物、高脂肪饮食，长期以来一直被用作许多神经和代谢紊乱疾病的有效非药物治疗方法。KD的有效性在线粒体疾病中得到体现，主要是在丙酮酸脱氢酶缺乏症中。
一名4岁女孩被诊断出患有F-box和富含亮氨酸重复序列蛋白4（FBXL4）基因突变，因败血症住院。由于胃肠道问题，她首先接受了标准肠外营养（PN）。在病程中，乳酸酸中毒变得突出，且对药物治疗无反应；标准PN逐渐转换为肠外生酮饮食，肠外生酮饮食后乳酸水平下降。患者出院时采用肠内生酮饮食。
这是第一例通过肠外生酮饮食有效治疗乳酸酸中毒的线粒体耗竭综合征病例。
