Wednesday 23 January 2013

Fabry disease



What is Fabry disease ?
- It is an inherited disorder that is caused by the buildup of a particular type of fat called glycosphingolipids with terminal α-galactosyl residues. and its predominant glycolipid is known as globotriaosylceramide (abbreviated: Gb3)

- These glycolipids accumulate in the lysosomes due to a consequence of defect in the lysosomal hydrolase and α-galactosidase A.

- Fabry disease is inherited as an X-linked disorder.
                                      



Lysosomal hydrolases are enzymes that work best at acidic pH. They are commonly located in lysosomes,which are acidic on the inside. Lysosomal hydrolases may be nucleases,proteases,glycosidases,lipases,phosphatases,sulfatases and phospholipases and they make up 50 of the degradative enzymes of the lysosome that break up biological matter.




Immuno-EM of a B lymphoblast derived from a patient with I-cell disease showing a lysosome (L) positively labeled for the lysosomal hydrolase cathepsin D (represented by 10 nm gold particles). This picture indicates that although the MPR pathway is impaired in these cells, lysosomal enzymes can still reach lysosomes. Bar 200 nm








































2 comments:

  1. Hello there.
    There's plenty of information however I think the overall layout is pretty messy so I don't really know where to start reading from.
    Is the Fabry disease a kind of Galactosialidosis?
    I am a bit confused as to which disease you are doing on.. Is Fabry a disease on it's own and galactosialidosis a disease on it's own?
    I think there's great effort in researching which is awesome but I think more effort can be put into summarizing or paraphrasing and labelling of your information. The fonts are kind of different as well, so it is easy for me to lose my concentration.

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  2. Heyhey,
    thank you so much for your constructive feedback, Atleast now i know if there were to any similar assignment given to me i will be able to improve on my mistakes. Since the blog has to be read from downwards i guess it's quite difficult in understanding the order of my project so here is the order in which you must follow 1)Lysosome 2)video 3)lysosomes 4)lysosomal storage diseases 5)video 6)Galactosialidosis 7)/8) Fabry diseases 9)symptoms of fabry diseases 10) Treatment to fabry disease 11) scientific article.
    for the answer to your question : galactosialidosis and Fabry diseases are 2 different diseases that fall under the category of lysosomal storage disorders.My topic was lys0ysomal storage disease which is a metabolic disorder. again thanks for your feedback on my structure of the blog sometimes the fonts were deliberately intended to be of different size because as readers when we go past any article we always look for what we want and we skip paragraphs because somethimes they are just too lengthy so i thought maybe through this different approach i will be able to capture the readers attention and enable them to read through my whole article. Thank you for your comment :)

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