| NE-Munroe-Meyer Institute of Genetics & Rehabilitation, UCEDD/LEND |
| Program Type | UCEDD |
Fiscal Year |
2016
|
| Date of Publication | 03/2016 |
Author(s) | Eric Rush |
| Type of Material |
|
| Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines |
|
Mol Genet Metab
|
| Publisher |
0 |
|
|
| Brief Description |
Peroxisome biogenesis disorders in the Zellweger spectrum (PBD-ZSD) are a heterogeneous group of genetic disorders caused by mutations in PEX genes responsible for normal peroxisome assembly and functions. As a result of impaired peroxisomal activities, individuals with PBD-ZSD can manifest a complex spectrum of clinical phenotypes that typically result in shortened life spans. The extreme variability in disease manifestation ranging from onset of profound neurologic symptoms in newborns to progressive degenerative disease in adults presents practical challenges in disease diagnosis and medical management. Recent advances in biochemical methods for newborn screening and genetic testing have provided unprecedented opportunities for identifying patients at the earliest possible time and defining the molecular bases for their diseases. Here, we provide an overview of current clinical approaches for the diagnosis of PBD-ZSD and provide broad guidelines for the treatment of disease in its w |
|
| Target Audience |
|
|
| Ordering Information |
| Name |
|
| Address |
|
| Phone |
|
|
|
| Email |
|
