Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders

被引：28
作者：
Klouwer, Femke C. C. [1 ,2 ]
Huffnagel, Irene C. [1 ]
Ferdinandusse, Sacha [2 ]
Waterham, Hans R. [2 ]
Wanders, Ronald J. A. [2 ]
Engelen, Marc [1 ]
Poll-The, Bwee Tien [1 ]
机构：
[1] Univ Amsterdam, Acad Med Ctr, Emma Childrens Hosp, Dept Pediat Neurol, Amsterdam, Netherlands
[2] Univ Amsterdam, Acad Med Ctr, Lab Genet Metab Dis, Amsterdam, Netherlands
来源：
NEUROPEDIATRICS | 2016年 / 47卷 / 04期
关键词：
peroxisomal disorders; clinical presentation; diagnostic workup; biochemical abnormalities; X-LINKED ADRENOLEUKODYSTROPHY; RHIZOMELIC CHONDRODYSPLASIA PUNCTATA; BIFUNCTIONAL PROTEIN-DEFICIENCY; CHAIN FATTY-ACIDS; COA-OXIDASE DEFICIENCY; ZELLWEGER SPECTRUM; REFSUMS-DISEASE; TRIHYDROXYCHOLESTANOIC-ACID; ADRENAL INSUFFICIENCY; MUTATIONAL SPECTRUM;
D O I：
10.1055/s-0036-1582140
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Peroxisomal disorders are a heterogeneous group of genetic metabolic disorders, caused by a defect in peroxisome biogenesis or a deficiency of a single peroxisomal enzyme. The peroxisomal disorders include the Zellweger spectrum disorders, the rhizomelic chondrodysplasia punctata spectrum disorders, X-linked adrenoleukodystrophy, andmultiple single enzyme deficiencies. There are several core phenotypes caused by peroxisomal dysfunction that clinicians can recognize. The diagnosis is suggested by biochemical testing in blood and urine and confirmed by functional assays in cultured skin fibroblasts, followed by mutation analysis. This review describes the phenotype of the main peroxisomal disorders and possible pitfalls in (laboratory) diagnosis to aid clinicians in the recognition of this group of diseases.
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收藏
页码：205 / 220
页数：16
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