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不同过氧化物酶体疾病（肢根型点状软骨发育不良和酰基辅酶A氧化酶缺乏症）中的超大过氧化物酶体：新数据

Very large peroxisomes in distinct peroxisomal disorders (rhizomelic chondrodysplasia punctata and acyl-CoA oxidase deficiency): novel data.

作者信息

De Craemer D, Zweens M J, Lyonnet S, Wanders R J, Poll-The B T, Schutgens R B, Waelkens J J, Saudubray J M, Roels F

机构信息

Department of Human Anatomy and Embryology, Vrije Universiteit, Brussels, Belgium.

出版信息

Virchows Arch A Pathol Anat Histopathol. 1991;419(6):523-5. doi: 10.1007/BF01650683.

DOI:10.1007/BF01650683
PMID:1750197
Abstract

We report very large hepatic peroxisomes (d-circle greater than 1 micron) in a patient with rhizomelic chondrodysplasia punctata and a patient with acyl-CoA oxidase deficiency. The effects of peroxisomal enlargement on the enzymatic activity are discussed. As increase in peroxisomal size is also reported in at least 12 other patients with peroxisomal disorders, we propose a relationship between the enlargement of the organelles and their functional deficiency.

摘要

我们报告了一名患有肢根型点状软骨发育不良的患者和一名患有酰基辅酶A氧化酶缺乏症的患者体内存在非常大的肝过氧化物酶体（直径大于1微米）。讨论了过氧化物酶体增大对酶活性的影响。由于至少在其他12名患有过氧化物酶体疾病的患者中也报告了过氧化物酶体大小增加的情况，我们提出细胞器增大与其功能缺陷之间存在关联。

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1
Very large peroxisomes in distinct peroxisomal disorders (rhizomelic chondrodysplasia punctata and acyl-CoA oxidase deficiency): novel data.不同过氧化物酶体疾病（肢根型点状软骨发育不良和酰基辅酶A氧化酶缺乏症）中的超大过氧化物酶体：新数据
Virchows Arch A Pathol Anat Histopathol. 1991;419(6):523-5. doi: 10.1007/BF01650683.
2
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Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings.点状软骨发育不良性侏儒症中孤立的磷酸二羟丙酮酰基转移酶缺乏症：临床表现、代谢及组织学发现
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Peroxisomal abnormality in fibroblasts from involved skin of CHILD syndrome. Case study and review of peroxisomal disorders in relation to skin disease.CHILD综合征受累皮肤成纤维细胞中的过氧化物酶体异常。病例研究及与皮肤疾病相关的过氧化物酶体疾病综述。
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[Peroxisomes and peroxisomal diseases].[过氧化物酶体与过氧化物酶体疾病]
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Peroxisomes of normal morphology but deficient in 3-oxoacyl-CoA thiolase in rhizomelic chondrodysplasia punctata fibroblasts.在点状软骨发育不良的成纤维细胞中，过氧化物酶体形态正常，但缺乏3-氧代酰基辅酶A硫解酶。
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本文引用的文献

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Effects of marine oil diet on peroxisomes and mitochondria of rat liver. A combined biochemical and morphometric study.海洋油类饮食对大鼠肝脏过氧化物酶体和线粒体的影响。一项生物化学与形态测量学相结合的研究。
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Time course of peroxisome biogenesis during adaptation to mild hyperthyroidism in rat liver: a morphometric/stereologic study by electron microscopy.大鼠肝脏适应轻度甲状腺功能亢进过程中过氧化物酶体生物发生的时间进程：一项通过电子显微镜进行的形态计量学/体视学研究
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Light microscopic visualization of peroxisomes and plasmalogens in first trimester chorionic villi.
人类肝细胞过氧化物酶体的继发性改变。
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Practical guide for morphometry of human peroxisomes on electron micrographs.电子显微镜下人类过氧化物酶体形态测量实用指南
J Inherit Metab Dis. 1995;18 Suppl 1:172-80. doi: 10.1007/BF00711438.
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Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings.点状软骨发育不良性侏儒症中孤立的磷酸二羟丙酮酰基转移酶缺乏症：临床表现、代谢及组织学发现
Eur J Pediatr. 1996 Dec;155(12):1035-9. doi: 10.1007/BF02532526.
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Establishment of a normal range of morphometric values for peroxisomes in paediatric liver.建立小儿肝脏中过氧化物酶体形态学测量值的正常范围。
Virchows Arch A Pathol Anat Histopathol. 1993;423(6):453-7. doi: 10.1007/BF01606535.
7
Morphometry of peroxisomes and immunolocalization of peroxisomal proteins in the liver of patients with generalised peroxisomal disorders.全身性过氧化物酶体疾病患者肝脏中过氧化物酶体的形态测定及过氧化物酶体蛋白的免疫定位
Virchows Arch A Pathol Anat Histopathol. 1993;423(6):459-68. doi: 10.1007/BF01606536.
8
Liver pathology and immunocytochemistry in congenital peroxisomal diseases: a review.先天性过氧化物酶体疾病的肝脏病理学与免疫细胞化学：综述
J Inherit Metab Dis. 1991;14(6):853-75. doi: 10.1007/BF01800464.
孕早期绒毛膜绒毛中过氧化物酶体和缩醛磷脂的光学显微镜观察
Prenat Diagn. 1987 Sep;7(7):525-30. doi: 10.1002/pd.1970070709.
4
Neonatal seizures and retardation in a girl with biochemical features of X-linked adrenoleukodystrophy: a possible new peroxisomal disease entity.一名具有X连锁肾上腺脑白质营养不良生化特征女孩的新生儿惊厥和智力发育迟缓：一种可能的新的过氧化物酶体疾病实体。
Neurology. 1988 Jul;38(7):1100-7. doi: 10.1212/wnl.38.7.1100.
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Rhizomelic chondrodysplasia punctata: clinical, pathologic, and biochemical findings in two patients.肢根型点状软骨发育不良：两名患者的临床、病理及生化表现
J Pediatr. 1988 Oct;113(4):685-90. doi: 10.1016/s0022-3476(88)80378-0.
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Hepatic peroxisomes in adrenoleukodystrophy and related syndromes: cytochemical and morphometric data.肾上腺脑白质营养不良及相关综合征中的肝脏过氧化物酶体：细胞化学和形态计量学数据。
Virchows Arch A Pathol Anat Histopathol. 1988;413(4):275-85. doi: 10.1007/BF00783019.
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Heterogeneity of catalase staining in human hepatocellular peroxisomes.人肝细胞过氧化物酶体中过氧化氢酶染色的异质性。
J Histochem Cytochem. 1989 Mar;37(3):331-7. doi: 10.1177/37.3.2918222.
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Am J Hum Genet. 1988 Mar;42(3):422-34.
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Altered acyl-CoA metabolism in riboflavin deficiency.核黄素缺乏时酰基辅酶A代谢的改变。
Biochim Biophys Acta. 1989 Dec 18;1006(3):335-43. doi: 10.1016/0005-2760(89)90021-0.
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Central nervous system malformations and white matter changes in pseudo-neonatal adrenoleukodystrophy.
Neuropediatrics. 1990 Nov;21(4):199-201. doi: 10.1055/s-2008-1071495.