Abstract：
BACKGROUND: Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a rare autosomal recessive disorder of fatty acid metabolism. Its clinical presentation includes hypoketotic hypoglycemia and potentially life-threatening multiorgan dysfunction.Therefore, the cornerstone of management includes avoiding fasting, dietary modification, and monitoring for complications. The co-occurrence of type 1 diabetes mellitus (DM1) with VLCADD has not been described in the literature.
METHODS: A 14-year-old male with a known diagnosis of VLCADD presented with vomiting, epigastric pain, hyperglycemia, and high anion gap metabolic acidosis. He was diagnosed with DM1 and managed with insulin therapy while maintaining his high complex carbohydrate, low long-chain fatty acids diet with medium-chain triglyceride supplementation. The primary diagnosis (VLCADD) makes the management of DM1 in this patient challenging as hyperglycemia related to the lack of insulin puts the patient at risk of intracellular glucose depletion and hence increases the risk for major metabolic decompensation.Conversely, adjustment of the dose of insulin requires more attention to avoid hypoglycemia. Both situations represent increased risks compared to managing DM1 alone and need a patient-centred approach, with close follow-up by a multidisciplinary team.
CONCLUSIONS: We present a novel case of DM1 in a patient with VLCADD. The case describes a general management approach and highlights the challenging aspects of managing a patient with two diseases with different potentially paradoxical life-threatening complications.
METHODS: A 14-year-old male with a known diagnosis of VLCADD presented with vomiting, epigastric pain, hyperglycemia, and high anion gap metabolic acidosis. He was diagnosed with DM1 and managed with insulin therapy while maintaining his high complex carbohydrate, low long-chain fatty acids diet with medium-chain triglyceride supplementation. The primary diagnosis (VLCADD) makes the management of DM1 in this patient challenging as hyperglycemia related to the lack of insulin puts the patient at risk of intracellular glucose depletion and hence increases the risk for major metabolic decompensation.Conversely, adjustment of the dose of insulin requires more attention to avoid hypoglycemia. Both situations represent increased risks compared to managing DM1 alone and need a patient-centred approach, with close follow-up by a multidisciplinary team.
CONCLUSIONS: We present a novel case of DM1 in a patient with VLCADD. The case describes a general management approach and highlights the challenging aspects of managing a patient with two diseases with different potentially paradoxical life-threatening complications.
摘要：
背景：超长链酰基辅酶A脱氢酶缺乏症（VLCADD）是一种罕见的常染色体隐性遗传脂肪酸代谢障碍。其临床表现包括低酮症性低血糖和潜在危及生命的多器官功能障碍。因此,管理的基石包括避免禁食，饮食调整，并监测并发症。文献中尚未描述1型糖尿病（DM1）与VLCADD的共同发生。
方法：一名已知诊断为VLCADD的14岁男性出现呕吐，上腹痛,高血糖症,和高阴离子间隙代谢性酸中毒。他被诊断患有DM1，并在保持高复合碳水化合物的同时接受胰岛素治疗，低长链脂肪酸饮食与中链甘油三酯补充。主要诊断(VLCADD)使得在该患者中DM1的管理具有挑战性,因为与缺乏胰岛素相关的高血糖使患者处于细胞内葡萄糖消耗的风险,并因此增加了主要代谢失代偿的风险。相反，胰岛素剂量的调整需要更加注意避免低血糖。与单独管理DM1相比，这两种情况都表示风险增加，并且需要以患者为中心的方法。由多学科小组密切跟进。
结论：我们介绍了一例VLCADD患者出现DM1的新病例。该案例描述了一般管理方法，并强调了管理患有两种疾病的患者的挑战性方面，这些疾病具有不同的潜在矛盾的危及生命的并发症。
方法：一名已知诊断为VLCADD的14岁男性出现呕吐，上腹痛,高血糖症,和高阴离子间隙代谢性酸中毒。他被诊断患有DM1，并在保持高复合碳水化合物的同时接受胰岛素治疗，低长链脂肪酸饮食与中链甘油三酯补充。主要诊断(VLCADD)使得在该患者中DM1的管理具有挑战性,因为与缺乏胰岛素相关的高血糖使患者处于细胞内葡萄糖消耗的风险,并因此增加了主要代谢失代偿的风险。相反，胰岛素剂量的调整需要更加注意避免低血糖。与单独管理DM1相比，这两种情况都表示风险增加，并且需要以患者为中心的方法。由多学科小组密切跟进。
结论：我们介绍了一例VLCADD患者出现DM1的新病例。该案例描述了一般管理方法，并强调了管理患有两种疾病的患者的挑战性方面，这些疾病具有不同的潜在矛盾的危及生命的并发症。
