PHENOTYPIC VARIATION IN SJOGREN LARSSON

关于Sjogren-Larsson综合征(SLS)的一些患者具有严重症状和一些患者具有轻微症状的调查。系统性红斑狼疮是一种脂肪醇代谢的遗传性疾病，由负责脂肪醛和脂肪醇代谢的缺陷基因引起。这种综合征导致的症状是皮肤鳞屑、发育迟缓、痉挛、智力低下和不能走路。患者可以很好地存活到成年。未代谢脂肪的积累被认为是导致这些症状的原因。这项研究的目的是确定脂肪酒精代谢和饮食摄入脂肪的变化是否以及在多大程度上影响系统性红斑狼疮的症状。本研究将由两部分组成。SLS患者可以同时参加这两个部分，而正常志愿者将只参加第二部分。SLS患者将在综合临床研究中心住院三天，在此期间，他们将接受身体检查，以确定身体的组成。将拍摄皮肤问题的照片。将检查眼睛是否有闪闪发光的白点。将进行脑部核磁共振成像(MRI)以确定大脑疾病。将进行皮肤活组织检查。血液样本将被采集来测量脂肪酒精的积累。将给出如何在家中记录饮食历史的说明。食物的种类和数量将被记录下来。在第二部分，将包括成人SLS和正常受试者。这将需要三天时间，受试者将被给予一种脂肪酒精来饮用。在隔夜的禁食之后，液体和糖将被静脉注射8小时。禁食还将持续八个小时。在48小时内将采集11个血样。

An investigation as to why some patients with Sjogren-Larsson Syndrome (SLS) have severe symptoms and some have mild symptoms. SLS is a genetic disorder of fatty alcohol metabolism due to a faulty gene that is responsible for the metabolism of fatty aldehydes and fatty alcohol. Symptoms resulting form this syndrome are scaling skin, developmental delay, spasticity, mental retardation, and inability to walk. Patients survive well into adulthood. The accumulation of the unmetabolized fat is thought to cause the symptoms. The purpose of this study is to determine whether and to what extent the symptoms of SLS are effected by variation in the metabolism of fatty alcohol and in the dietary intake of this fat. This study will consist of two parts. Patients with SLS may be enrolled in both parts and normal volunteers will be enrolled only in the second part. SLS patients will be admitted to the General Clinical Research Center for three days during which they will be given a physical to determine the makeup of the body. Photographs will be taken of the skin problems. The eyes will be examined for glistening, white spots. A brain MRI (magnetic resonance imaging) will be done to determine brain disease. A skin biopsy will be performed. Blood samples will be taken to measure fatty alcohol accumulation. Instructions will be given on how to record a dietary history at home. Types and amounts of food will be recorded. In part 2, adult SLS and normal subjects will be included. It will take three days and subjects will be given a type of fatty alcohol to drink. After an overnight fast, fluids and sugar will be given intravenously for eight hours. Fasting will continue for eight more hours. Eleven blood samples will be taken over a 48 hour period.