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
At the time of an acute attack, there is ketoacidosis with Ketonuria, hyperammonemia a pancytopenia.

Therapy
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.

related articles

 * Dědičné metabolické poruchy
 * Organické acidurie
 * Ketoacidóza