PDF(Pubmed)
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。
