MULTISYSTEM TRIGLYCERIDE STORAGE DISORDER WITH IMPAIRED LONG-CHAIN FATTY-ACID OXIDATION
MULTISYSTEM TRIGLYCERIDE STORAGE DISORDER WITH IMPAIRED LONG-CHAIN FATTY-ACID OXIDATION
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DOI：
10.1002/ana.410070104
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发表时间：
1980-01-01
影响因子：
11.2
通讯作者：
LUCKE, S
中科院分区：
文献类型：
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作者：
ANGELINI, C;PHILIPPART, M;LUCKE, S
一名5岁女孩因先天性鱼鳞病、肝脾肿大、空泡化粒细胞（乔丹氏异常）和肌病就诊。病理学、超微结构和生化研究表明，非溶酶体、多系统的甘油三酯储存。培养的成纤维细胞的摄取增加，但标记油酸的氧化减少。患者空腹时未产生酮体。中链甘油三酯饮食逆转了肝肿大。这些研究都与长链脂肪酸催化剂的部分缺陷一致。这种新发现的综合征可能是作为常染色体隐性遗传性状传播的。
A five‐year‐old girl presented with congenital ichthyosis, hepatosplenomegaly, vacuolized granulocytes (Jordans' anomaly), and myopathy. Pathological, ultrastructural, and biochemical studies revealed nonlysosomal, multisystemic triglyceride storage. The cultured fibroblasts had increased uptake but decreased oxidation of labeled oleate. The patient failed to produce ketone bodies on fasting. A medium‐chain triglyceride diet reversed the hepatomegaly. These studies are all consistent with a partial defect in the catabolism of long‐chain fatty acids. This newly identified syndrome is presumably transmitted as an autosomal recessive trait.