| DiseaseID |
HGD22 |
| Genetic
Disorder |
Zellweger syndrome
|
| Gene
Name |
PXR1 gene |
| Description |
Zellweger syndrome is a rare hereditary disorder affecting infants, and usually results in death. Unusual problems in prenatal development, an enlarged liver, high levels of iron and copper in the blood, and vision disturbances are among the major manifestations of Zellweger syndrome.
|
| Symptoms |
List of symptoms of Zellweger Syndrome:
? Enlarged liver
? Elevated iron
? Elevated copper
? Vision disturbances
? Prenatal growth failure
? Floppy baby - lack of muscle tone
? Inability to move (infant)
? Unusual facial characteristics
? Mental retardation
? Seizures
? Poor suck
? Difficulty swallowing
? Jaundice
? Gastrointestinal bleeding
|
| Causes |
It is characterized by an individual's inability to beta-oxidize very-long chain fatty acids in the peroxisomes of the cell, due to a genetic disorder in one of the several genes involved with peroxisome biogenesis. |
| Diagnosis |
The distinctive shape of the head and face of the infant born with Zellweger syndrome provides a clue to the diagnosis.
Zellweger syndrome causes the build-up of very-long-chain fatty acids (VLCFA), so a test for VLCFA can help confirm the diagnosis. This and other highly specialized biochemical and genetic tests can be done at certain testing centers.
|
| Treatment |
There is no cure for Zellweger syndrome, nor is there a standard course of treatment. Since the metabolic and neurological abnormalities that cause the symptoms of Zellweger syndrome are caused during fetal development, treatments to correct these abnormalities after birth are limited. Most treatments are symptomatic and supportive. |
