Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Acta Myol. 2020 Mar 1;39(1):19-23. doi: 10.36185/2532-1900-003. eCollection 2020 Mar.
Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is a severe inborn error of fat metabolism. In late-onset MADD, hepatopathy in the form of steatosis is commonplace and considered a benign and stable condition that does not progress to more advanced stages of liver disease, however, progression to cirrhosis and acute liver failure (ALF) has been reported in two previous case reports. Here, we report a 22-year-old man, who suffered from late-onset MADD and died from cirrhosis and ALF. In the span of three months repeated clinical examinations, blood tests, and diagnostic imaging as well as liver biopsy revealed rapid progression of hepatopathy from steatosis to decompensated cirrhosis with portal hypertension. Routine studies for recognized etiologies found no evident cause besides MADD. This case report supports the findings of the two previous case reports and adds further evidence to the suggestion that late-onset MADD should be considered a rare cause of cirrhosis and ALF.
迟发性多酰基辅酶 A 脱氢酶缺乏症（MADD）是一种严重的脂肪代谢先天性缺陷。在迟发性 MADD 中，以脂肪变性为形式的肝病变很常见，被认为是一种良性和稳定的状态，不会进展为更严重的肝病阶段，然而，在之前的两份病例报告中，已经有进展为肝硬化和急性肝衰竭（ALF）的病例。在这里，我们报告了一例 22 岁男性，患有迟发性 MADD 并死于肝硬化和 ALF。在三个月的时间里，反复的临床检查、血液检查、诊断性影像学检查以及肝活检显示肝病变从脂肪变性迅速进展为失代偿性肝硬化伴门静脉高压。除了 MADD 之外，针对已知病因的常规研究并未发现明显的病因。本病例报告支持之前的两份病例报告的发现，并进一步证明迟发性 MADD 应被视为肝硬化和 ALF 的罕见病因。
