Chandoga J, Tomková M, Hlavatá A
Centrum lekárskej genetiky Fakultnej nemocnice a IVZ v Bratislave, Slovakia.
Bratisl Lek Listy. 1997 Jan;98(1):32-42.
Nearly two tens of diseases are known to be caused by impairment of several metabolic functions of peroxisomes, or by deficiency in individual peroxisomal enzymes. With the exception of X-bound adrenoleukodystrophy, all diseases are based on autosomally recessive type of inheritance and a majority of them are characteristic by specific neurologic symptoms. The group of diseases in which patients develop a generalised loss of peroxisomal functions includes: Zellweger's cerebro-hepato-renal syndrome, neonatal adrenoleukodystrophy, infantile Refsum's disease, hyperpipecolic acidaemia. Other diseases, such as rhizomelic chondrodysplasia punctata and Zellweger-like syndrome are accompanied by a deficiency in several enzymatic activities. X-bound adrenoleukodystrophy, pseudo-Zellweger's syndrome, hyperoxaluria 1, adult form of Refsum's disease and acatalasaemia are peroxisomal diseases with a deficiency of a single enzyme. In clinically most severe diseases (generalised loss of peroxisomal functions), the impairment of peroxisomal biogenesis is caused assumedly due to the defect in some of the peroxisomal membrane proteins. The biochemical findings are brought about by insufficiency in such metabolic functions as oxidation of fatty acids with very long chains, oxidation of the phytanic and pipecolic acids, synthesis of cholesterol, bile salts and plasmalogenes. Rhizomelic chondrodysplasia punctata and Zellweger's syndrome are more moderate forms which are dominantly biochemically manifestant by an impairment in the synthesis of plasmalogenes. Among the diseases characterised by a deficiency in individual peroxisomal enzymes, most frequent is the X-bound andrenoleukodystrophy which has several clinical phenotypes manifestant in childhood, as well as a clinically less severe form manifestant in adulthood-adrenomyeloneuropathy. The diagnosis of peroxisomal diseases is performed by use of a wide range of methods (morphological, biochemical, immunochemical and molecular genetic examinations) which enable both postnatal and prenatal diagnostics. (Tab. 1, Ref. 104.)
已知近二十种疾病是由过氧化物酶体的几种代谢功能受损或个别过氧化物酶体酶缺乏引起的。除了X连锁肾上腺脑白质营养不良外，所有疾病均基于常染色体隐性遗传类型，其中大多数以特定的神经症状为特征。患者出现过氧化物酶体功能普遍丧失的疾病包括：泽尔韦格脑肝肾综合征、新生儿肾上腺脑白质营养不良、婴儿型雷夫叙姆病、高哌可酸血症。其他疾病，如肢根型点状软骨发育不良和类泽尔韦格综合征，伴有多种酶活性缺乏。X连锁肾上腺脑白质营养不良、假性泽尔韦格综合征、原发性高草酸尿症1型、成人型雷夫叙姆病和无过氧化氢酶血症是单一酶缺乏的过氧化物酶体疾病。在临床上最严重的疾病（过氧化物酶体功能普遍丧失）中，可以推测过氧化物酶体生物发生的损害是由于某些过氧化物酶体膜蛋白的缺陷所致。生化结果是由超长链脂肪酸氧化、植烷酸和哌可酸氧化、胆固醇、胆汁盐和缩醛磷脂合成等代谢功能不足引起的。肢根型点状软骨发育不良和泽尔韦格综合征是较为温和的形式，在生化上主要表现为缩醛磷脂合成受损。在以个别过氧化物酶体酶缺乏为特征的疾病中，最常见的是X连锁肾上腺脑白质营养不良，它在儿童期有几种临床表型，并在成年期有临床症状较轻的形式——肾上腺脊髓神经病。过氧化物酶体疾病的诊断通过多种方法（形态学、生化、免疫化学和分子遗传学检查）进行，这些方法可用于产后和产前诊断。（表1，参考文献104）
