Talk:Propionic acidemia
Propionic acidemia is one of the hereditary metabolic disor(DMT), specifically it is classified asorganic aciduria . it is Automosmal Recessive.
There is a defect in propionyl-CoA carboxylase (either A or B subunits). Diagnosed in at least four patients in the Czech Republic.
Laboratory findings[edit source]
At the time of an acute attack, there is ketoacidosis with Ketonuria, hyperammonemia a pancytopenia.
Therapy[edit source]
During an acute attack, it is necessary to use elimination methods and glucose administration. In the long term, it is necessary to follow a low-protein diet with the supply of AMK (up to valine) and also the administration of ATB (metronidazolu) to prevent intestinal colonization. In more severe forms, liver transplantation is indicated. Template:Doplňte zdroj
Links[edit source]
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External links[edit source]
Template:Navbox - dědičné metabolické poruchy
Kategorie:Patobiochemie
Kategorie:Pediatrie
Kategorie:Genetika
