PDF(Pubmed)
Abstract：
UNASSIGNED: Multiple acyl-CoA dehydrogenase deficiency (MADD) is an inherited metabolic disorder caused by biallelic pathogenic variants in genes related to the flavoprotein complex. Dysfunction of the complex leads to impaired fatty acid oxidation and ketone body production which can cause hypoketotic hypoglycemia with prolonged fasting. Patients with fatty acid oxidation disorders (FAODs) such as MADD are treated primarily with a dietary regimen consisting of high-carbohydrate foods and avoidance of prolonged fasting. However, information on the long-term sequelae associated with this diet have not been accumulated. In general, high-carbohydrate diets can induce diseases such as type 2 diabetes mellitus (T2DM), although few patients with both MADD and T2DM have been reported.
UNASSIGNED: We present the case of a 32-year-old man with MADD who was on a high-carbohydrate diet for >30 years and exhibited symptoms resembling diabetic ketoacidosis. He presented with polydipsia, polyuria, and weight loss with a decrease in body mass index from 31 to 25 kg/m2 over 2 months. Laboratory tests revealed a HbA1c level of 13.9%; however, the patient did not show metabolic acidosis but only mild ketosis.
UNASSIGNED: This report emphasizes the potential association between long-term adherence to high-carbohydrate dietary therapy and T2DM development. Moreover, this case underscores the difficulty of detecting diabetic ketosis in patients with FAODs such as MADD due to their inability to produce ketone bodies. These findings warrant further research of the long-term complications associated with this diet as well as warning of the potential progression of diabetes in patients with FAODs such as MADD.
UNASSIGNED: We present the case of a 32-year-old man with MADD who was on a high-carbohydrate diet for >30 years and exhibited symptoms resembling diabetic ketoacidosis. He presented with polydipsia, polyuria, and weight loss with a decrease in body mass index from 31 to 25 kg/m2 over 2 months. Laboratory tests revealed a HbA1c level of 13.9%; however, the patient did not show metabolic acidosis but only mild ketosis.
UNASSIGNED: This report emphasizes the potential association between long-term adherence to high-carbohydrate dietary therapy and T2DM development. Moreover, this case underscores the difficulty of detecting diabetic ketosis in patients with FAODs such as MADD due to their inability to produce ketone bodies. These findings warrant further research of the long-term complications associated with this diet as well as warning of the potential progression of diabetes in patients with FAODs such as MADD.
摘要：
■多酰基辅酶A脱氢酶缺乏症（MADD）是一种遗传性代谢紊乱，由与黄素蛋白复合物相关的基因中的双等位基因致病变体引起。复合物的功能障碍导致脂肪酸氧化和酮体产生受损，这可能导致长时间禁食的低酮症性低血糖。患有脂肪酸氧化紊乱(FAOD)如MADD的患者主要用由高碳水化合物食物和避免长时间禁食组成的饮食方案来治疗。然而,与这种饮食相关的长期后遗症的信息尚未积累。总的来说,高碳水化合物饮食可诱发疾病，如2型糖尿病（T2DM），尽管很少有MADD和T2DM患者的报道。
■我们介绍了一例32岁的MADD患者，该患者接受高碳水化合物饮食30年以上，并表现出类似糖尿病酮症酸中毒的症状。他表现为多饮，多尿,和体重减轻，体重指数在2个月内从31下降到25kg/m2。实验室检测显示HbA1c水平为13.9%；然而，患者未出现代谢性酸中毒,仅出现轻度酮症.
■本报告强调了长期坚持高碳水化合物饮食治疗与T2DM发展之间的潜在关联。此外，该病例强调了由于MADD等FAOD患者无法产生酮体而难以检测糖尿病酮症.这些发现需要进一步研究与这种饮食相关的长期并发症，并警告患有FAOD（如MADD）的患者糖尿病的潜在进展。
■我们介绍了一例32岁的MADD患者，该患者接受高碳水化合物饮食30年以上，并表现出类似糖尿病酮症酸中毒的症状。他表现为多饮，多尿,和体重减轻，体重指数在2个月内从31下降到25kg/m2。实验室检测显示HbA1c水平为13.9%；然而，患者未出现代谢性酸中毒,仅出现轻度酮症.
■本报告强调了长期坚持高碳水化合物饮食治疗与T2DM发展之间的潜在关联。此外，该病例强调了由于MADD等FAOD患者无法产生酮体而难以检测糖尿病酮症.这些发现需要进一步研究与这种饮食相关的长期并发症，并警告患有FAOD（如MADD）的患者糖尿病的潜在进展。
