Newborns may present with profound hypotonia (low muscle tone), seizures, apnea, and an inability to eat. Cause
Zellweger syndrome is an autosomal recessive disorder caused by mutations in genes that encode peroxins, proteins required for the normal assembly of peroxisomes. Most commonly, patients have mutations in the PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, or PEX26 genes. In almost all cases, patients have mutations that inactivate or greatly reduce the activity of both the maternal and paternal copies of one these aforementioned PEX genes.As a result of impaired peroxisome function, an individuals tissues and cells can accumulate very long chain fatty acids (VLCFA) and branched chain fatty acids (BCFA) that are normally degraded in peroxisomes. The accumulation of these lipids can impair the normal function of multiple organ systems, as discussed above. In addition, these individuals can show deficient levels of plasmalogens, ether-phospholipids that are especially important for brain and lung function. Diagnosis
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 primarily 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.
Bleomycin is a medication used to treat cancer. This includes Hodgkins lymphoma, non-Hodgkins lymphoma, testicular cancer, ovarian cancer, and cervical cancer among others. Typically used with other cancer medications, it can be given intravenously, by injection into a muscle or under the skin. It may also be administered inside the chest to help prevent the recurrence of a fluid around the lung due to cancer; however talc is better for this.Common side effects include fever, weight loss, vomiting, and rash. A severe type of anaphylaxis may occur. It may also cause inflammation of the lungs that can result in lung scarring. Chest X-rays every couple of weeks are recommended to check for this. Bleomycin may cause harm to the baby if used during pregnancy. It is believed to primarily work by preventing the synthesis of DNA.Bleomycin was discovered in 1962. It is on the World Health Organizations List of Essential Medicines. It is available as a generic medication. It is made by the bacterium Streptomyces verticillus. Medical uses
Cancer
Bleomycin is mostly used to treat cancer. This includes testicular cancer, ovarian cancer, and Hodgkins disease, and less commonly non-Hodgkins disease. It can be given intravenously, by intramuscular injection, or under the skin. Other uses
It may also be put inside the chest to help prevent the recurrence of a pleural effusion due to cancer. However, for scarring down the pleura, talc appears to be the better option.While potentially effective against bacterial infections, its toxicity prevents its use for this purpose.