• Embed Doc
  • Copy Link
  • Readcast
  • Collections
  • CommentGo Back
Download
 
 
Hanan Fathy
 
 
 
 
•
M
etabolic disorders caused by genetic mutations andenzyme deficiencies constitute a wide spectrum of diseases in mankind.•Since Archibald Garrod first introduced the term "inbornerrors of metabolism" at the beginning of the 20thcentury, more than 300 hereditary metabolic disordershave been discovered.•Over one-third of such disorders are characterized byCNS involvement and regressive neurologic symptoms.•Most of which are transmitted by the autosomalrecessive inheritance pattern.•Enzyme deficiencies cause defects in the synthesis,metabolism, transportation and storage of biochemicalcompounds, which in turn may lead to tissue intoxicationor energy deficiency in vital organs like the brain, eyes,heart, muscles, liver and kidneys.
of 00

Leave a Comment

You must be to leave a comment.
Submit
Characters: ...
You must be to leave a comment.
Submit
Characters: ...