A new hepato-pancreato-renal disorder resembling tyrosinemia involving neuropathy and abnormal metabolism of polyunsaturated acids.
A new hepato-pancreato-renal disorder resembling tyrosinemia involving neuropathy and abnormal metabolism of polyunsaturated acids.
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一种类似于酪氨酸血症的新肝胰肾疾病，涉及神经病变和多不饱和酸代谢异常。
DOI：
10.1097/00005176-198803000-00002
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发表时间：
1988
影响因子：
2.9
通讯作者：
Holman,RT
中科院分区：
文献类型：
--
作者：
Sharp,HL;Lindahl,JA;Freese,DK;Burke,B;Englund,J;Johnson,D;Johnson,SB;Holman,RT
这份报告描述了一种新的疾病，类似于遗传性酪氨酸血症(HT)，但在几个方面不同。相似之处包括低蛋白血症、小结节性肝硬变、α胎儿蛋白阳性肝细胞癌、肾范柯尼综合征伴肾小管扩张、高蛋氨酸血症和伴有胰岛细胞增生的低血糖。然而，酪氨酸代谢途径是完整的。独特的表现包括视神经萎缩、小脑变性和胰腺外分泌物发育不良。测定血清和肝脏中多不饱和脂肪酸(PUFA)的含量。血清磷脂的初步PUFA图谱显示亚油酸显著升高，亚麻酸低于正常水平。来自这些前体的所有多不饱和脂肪酸都不存在，这表明这两种必需脂肪酸在合成更长链的高度不饱和结构多不饱和脂肪酸方面存在严重异常。肝磷脂分析表明，两例HT患者的肝组织中亚油酸含量较低，w3和单烯酸含量较高。PUFA模式的大体异常，尽管可能继发于另一原因，但代表了基本膜脂及其衍生的二十烷基类化合物的严重结构和功能异常。
This report describes a new disorder resembling hereditary tyrosinemia (HT) but differing from it in several respects. Similarities include failure to thrive with hypoproteinemia, micronodular cirrhosis, α‐fetoprotein positive hepatocellular carcinoma, renal Fanconi syndrome with renal tubular ectasia, hypermethioninemia, and hypoglycemia associated with islet cell hyperplasia. However, the tyrosine metabolic pathway was intact. Unique findings include optic atrophy, cerebellar degeneration, and exocrine pancreatic hypoplasia. Polyunsaturated fatty acid (PUFA) status was evaluated in the serum and liver. Initial PUFA profile to serum phospholipids revealed grossly elevated linoleic acid and subnormal linolenic acid. All PUFAs derived from these precursors were absent suggesting gross abnormalities in the utilization of these two essential fatty acids for synthesis of longer chain highly unsaturated structural PUFA. Analysis of liver phospholipids indicated that linoleic acid was lower and w3 and monenoic acids were higher than in the liver specimens from two cases of HT. The gross abnormalities in PUFA pattern, although perhaps secondary to another cause, represent serious structural and functional abnormalities of essential membrane lipids and potentially of eicosanoids derived from them.