Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders.
Neuropediatrics
; 47(4): 205-20, 2016 Aug.
Article
em En
| MEDLINE
| ID: mdl-27089543
ABSTRACT
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, and multiple 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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Transtornos Peroxissômicos
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
En
Revista:
Neuropediatrics
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
Holanda