线粒体三功能蛋白缺乏症中的甲状旁腺功能减退症

Hypoparathyroidism in mitochondrial trifunctional protein deficiency.

作者信息

Dionisi-Vici C, Garavaglia B, Burlina A B, Bertini E, Saponara I, Sabetta G, Taroni F

机构信息

Department of Metabolism, Bambino Gesù Hospital Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.

出版信息

J Pediatr. 1996 Jul;129(1):159-62. doi: 10.1016/s0022-3476(96)70206-8.

DOI:10.1016/s0022-3476(96)70206-8

PMID:8757579

Abstract

Mitochondrial trifunctional protein deficiency, a recently identified disorder of fatty-acid oxidation, may show characteristic features such as peripheral neuropathy, pigmentary retinopathy, and acute fatty liver degeneration in pregnant women with an affected fetus. We describe a patient with trifunctional protein deficiency whose clinical picture consisted of severe calcium and phosphate abnormalities caused by hypoparathyroidism.

摘要

线粒体三功能蛋白缺乏症是一种最近才被发现的脂肪酸氧化障碍疾病，在怀有患病胎儿的孕妇中可能表现出周围神经病变、色素性视网膜病变和急性脂肪肝变性等特征性表现。我们描述了一名患有三功能蛋白缺乏症的患者，其临床表现为甲状旁腺功能减退导致的严重钙和磷异常。