Bursle C, Weintraub R, Ward C, Justo R, Cardinal J, Coman D
Department of Metabolic Medicine, The Lady Cilento Children's Hospital, Brisbane, QLD, Australia.
School of Medicine, University of Queensland, Brisbane, QLD, Australia.
JIMD Rep. 2018;40:91-95. doi: 10.1007/8904_2017_68. Epub 2017 Nov 10.
We describe mitochondrial trifunctional protein deficiency (MTPD) in two male siblings who presented with severe cardiomyopathy in infancy. The first sibling presented in severe cardiac failure at 6 months of age and succumbed soon after. The second sibling came to attention after newborn screening identified a possible fatty acid oxidation defect. Dietary therapy and carnitine supplementation commenced in the neonatal period. Despite this the second child required cardiac transplantation at 3 years of age after a sudden and rapid decline in cardiac function. The outcome has been excellent, with no apparent extra-cardiac manifestations of a fatty acid oxidation disorder at the age of 7. Pathogenic HADHA mutations were subsequently identified via genome wide exome sequencing. This is the first reported case of MTPD to undergo cardiac transplantation. We suggest that cardiac transplantation could be considered in the treatment of cardiomyopathy in MTPD.
我们描述了两名男性同胞患有的线粒体三功能蛋白缺乏症（MTPD），他们在婴儿期出现了严重的心肌病。第一个同胞在6个月大时出现严重心力衰竭，不久后死亡。第二个同胞在新生儿筛查发现可能存在脂肪酸氧化缺陷后受到关注。新生儿期开始进行饮食治疗和补充肉碱。尽管如此，第二个孩子在3岁时因心功能突然快速下降而需要进行心脏移植。结果非常好，7岁时没有明显的脂肪酸氧化障碍的心脏外表现。随后通过全基因组外显子测序鉴定出致病性HADHA突变。这是首例报道的接受心脏移植的MTPD病例。我们建议在治疗MTPD所致心肌病时可考虑心脏移植。
