Clinical, pathological, and biochemical studies on an infantile case of sulfatide/GM1 activator protein deficiency.
Clinical, pathological, and biochemical studies on an infantile case of sulfatide/GM1 activator protein deficiency.
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一例脑硫苷脂/GM1 激活蛋白缺乏症婴儿病例的临床、病理和生化研究。
DOI：
10.1002/ajmg.1320330223
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发表时间：
1989
期刊：
影响因子：
--
通讯作者：
Balentine,JD
中科院分区：
文献类型：
--
作者：
Wenger,DA;DeGala,G;Williams,C;Taylor,HA;Stevenson,RE;Pruitt,JR;Miller,J;Garen,PD;Balentine,JD
一名28个月大的黑人男性死于严重的精神和运动恶化、癫痫发作和误吸并发症。尸检显示肝脏中度肿大，脾脏和肾脏正常，睾丸小，大脑基本正常。进一步检查显示不规则的大脑回，有储存或硬化过程的证据。福尔马林固定组织的脂质薄层色谱显示，肝脏中神经酰胺三己糖苷和可能的硫脂质的水平升高，而大脑中半乳糖神经酰胺与硫脂质的比例降低。对福尔马林固定脑中的神经节苷脂的检查表明gm1神经节苷脂的百分比略有增加，gm2和gm3神经节苷脂的百分比明显升高。培养的皮肤成纤维细胞对大量溶酶活性正常，包括巯基磺酸酶a和半乳糖脑苷酶。当细胞加载[14C]硫fatide时，3天后只有约12%的硫fatide被代谢。对细胞提取物进行SDS - PAGE和抗鞘脂激活蛋白- 1 （SPA）兔抗血清免疫印迹，未检测到交叉反应物质，证实SAP - 1缺乏引起的异色性脑白质营养不良的诊断。该患者在临床上比先前描述的其他患者更严重。进一步的研究正在进行中，以确定该患者突变的性质。
A 28‐month‐old black male died with severe complications of mental and motor deterioration, seizures, and aspiration. Autopsy demonstrated moderate liver enlargement, normal spleen and kidneys, small testes, and a grossly normal brain. Further examination showed irregular macrogyrae with evidence of a storage or sclerotic process. Thin layer chromatography of the lipids in formalin‐fixed tissue demonstrated elevated levels of ceramide trihexoside and possibly sulfatides in liver and a decrease in the ratio of galactosylceramide to sulfatide in brain. Examination of the gangliosides in formalin‐fixed brain indicated a slight increase in the percentage of GM1ganglioside and a clear elevation in GM2and GM3gangliosides. Cultured skin fibroblasts had a normal activity for a large number of lysosmal enzymes including arysulfatase A and galactocerebrosidase. When the cells were loaded with [14C]sulfatide only about 12% of sulfatide was metabolized after 3 days. Extracts of the cells were subjected to SDS‐PAGE and immunoblotting with antisphingolipid activator protein‐1 (SPA)rabbit antiserum, and no cross‐reacting material was detected confirming the diagnosis of metachromatic leukodystrophy caused by SAP‐1deficiency. This patient was clinically more severe than the other patuent described previsously with this deficiency. Further studies are underway to define the nature of the mutation in this patient.