Abstract:
Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD) is a fatty acid oxidation disorder characterized by the decreased ability of the enzyme very-long-chain acyl-CoA dehydrogenase to break down fatty acids with 14 to 20-long carbon chains. The resulting clinical manifestations are variable in severity and include hypoketotic hypoglycemia, rhabdomyolysis, and cardiomyopathy. Treatment can consist of limiting the dietary intake of long-chain fatty acids, the prevention of fasting, and the supplementation of medium-chain fats. This study, conducted in the context of a 5-year long-term follow-up on VLCADD, evaluates how the diagnosis of this fatty acid disorder impacts the family, specifically as it relates to the medical diet and barriers to care. Caregivers (n = 10) of individuals with VLCADD responded to a survey about how VLCADD potentially impacts their family. The review included the clinical outcomes of the patients (n = 11), covering instances of rhabdomyolysis, cardiomyopathy, and hospitalizations related to VLCADD. Families affected by VLCADD experience barriers to care, including difficulties with finances, ability to work, and access to nutrition.
摘要:
超长链酰基辅酶A脱氢酶缺乏症(VLCADD)是一种脂肪酸氧化障碍,其特征在于超长链酰基辅酶A脱氢酶分解具有14至20个长碳链的脂肪酸的能力降低。由此产生的临床表现在严重程度上是不同的,包括低酮症性低血糖,横纹肌溶解症,和心肌病。治疗可以包括限制长链脂肪酸的饮食摄入,预防禁食,和补充中链脂肪。这项研究,在VLCADD的5年长期随访的背景下进行,评估这种脂肪酸紊乱的诊断如何影响家庭,特别是因为它涉及到医疗饮食和护理障碍。VLCADD患者的看护人(n=10)回应了一项关于VLCADD可能如何影响其家庭的调查。审查包括患者的临床结果(n=11),覆盖横纹肌溶解的实例,心肌病,以及与VLCADD相关的住院治疗。受VLCADD影响的家庭遇到护理障碍,包括财政困难,工作能力,和获得营养。