Saini Arushi Gahlot, Singhi Pratibha
Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
J Child Neurol. 2013 Apr;28(4):535-7. doi: 10.1177/0883073812447286. Epub 2012 Jul 6.
Fumarase deficiency is a very rare inborn error of metabolism caused by decreased activity of fumarate hydratase enzyme. We describe a fumarase-deficient infant who presented with encephalopathy, metabolic crisis, psychomotor retardation, hypotonia, seizures, and facial dysmorphism. To our knowledge, this is the first Indian child to be described with fumarase deficiency.
延胡索酸酶缺乏症是一种非常罕见的先天性代谢缺陷病，由延胡索酸水合酶活性降低引起。我们描述了一名患有延胡索酸酶缺乏症的婴儿，该婴儿出现了脑病、代谢危机、精神运动发育迟缓、肌张力减退、癫痫发作和面部畸形。据我们所知，这是首例被描述的患有延胡索酸酶缺乏症的印度儿童。
