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Article on an Overview of Clinical Features, Peroximal Disorders, Prognosis, Genetic Counseling and Current Treatment Methodologies of Zellweger Syndrome.

Amber Fatima

Government college university, Lahore

Tania Mushtaq

Government college university, Lahore

Sikander Ali

Government college university, Lahore

84-101

Vol: 7, Issue: 2, 2017

Receiving Date: 2017-02-19 Acceptance Date:

2017-04-23

Publication Date:

2017-05-20

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Abstract

Zellweger spectrum disorders are the chief subgroup of peroximal biogenesis disorders resulted due to problems in PEX genes. Peroxsoimal biogenesis disorder are resulted due to mutation in well known 13 PEX genes which are used for coding peroxins. The confirmation of peroxisomal biogenesis disorder was done by enzyme analysis and y very long chain fatty acids present in plasma and fibrioblast and also by study of immunoflourescent microscopy. It is one of the well known clinical and biochemical field that is further divided into three clinical phenotypes. It is mainly associated with babies. The defective peroxisomes cause different metabolic disorders which can be mainly perceived in blood and urine. For zellweger syndrome there are no therapies are discovered yet but care and precautions are available. The patients of zellweger syndrome disease have distinct clinacl and facial features, they have short life expectancy mostly upto 1 year.the uses of DNA testing in peroxisomal biogenesis disorder are carrier testing of relatives, testing of parents or genetic preimplantations, diagnosis in families with presence risk of zellweger syndrome disorder and this also help to improve managmentpatients. Sometimes this disease shows misdiagnosis because its symptoms are highly similar to other diseases, so we should perform proper testing to avoid any misleading to any other diseases

Keywords: Zellweger spectrum disorders; Peroximal Disorders; leukodystrophies

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