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Zellweger Syndrome is defined as one of the prominent illness or syndrome, which is also referred to as cerebrohepatorenal syndrome. It is rated as an acute or serious problem or congenital disorder. Here one tends to experience a reduction or absence of functional peroxisomes for cells in the body. Along with the above, one would also experience issues here related to neuronal migration, neuronal positioning, etc.
HOW IS ZELLWEGER SYNDROME DIAGNOSED?
In addition to genetic tests involving the sequencing of PEX genes, biochemical tests have proven highly effective for the diagnosis of Zellweger syndrome and other peroxisomal disorders. Typically, Zellweger syndrome patients show elevated very long chain fatty acids in their blood plasma. Cultured primary skin fibroblasts obtained from patients show elevated very long chain fatty acids, impaired very long chain fatty acid beta-oxidation, phytanic acid alpha-oxidation, pristanic acid alpha-oxidation, and plasmalogen biosynthesis.
HOW IS ZELLWEGER SYNDROME TREATED?
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.
DID YOU KNOW?
Zellweger syndrome is named after Hans Zellweger (1909–1990), a Swiss-American pediatrician, a professor of pediatrics and genetics at the University of Iowa who researched this disorder.