The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders.
J Inherit Metab Dis
; 39(4): 531-43, 2016 07.
Article
in En
| MEDLINE
| ID: mdl-26943801
ABSTRACT
Peroxisomes are dynamic organelles that play an essential role in a variety of metabolic pathways. Peroxisomal dysfunction can lead to various biochemical abnormalities and result in abnormal metabolite levels, such as increased very long-chain fatty acid or reduced plasmalogen levels. The metabolite abnormalities in peroxisomal disorders are used in the diagnostics of these disorders. In this paper we discuss in detail the different diagnostic tests available for peroxisomal disorders and focus specifically on the important role of biochemical and functional studies in cultured skin fibroblasts in reaching the right diagnosis. Several examples are shown to underline the power of such studies.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Biomarkers
/
Peroxisomal Disorders
/
Diagnostic Techniques and Procedures
Type of study:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Limits:
Humans
Language:
En
Journal:
J Inherit Metab Dis
Year:
2016
Document type:
Article
Affiliation country: