What causes propionic acidemia?
What causes propionic acidemia?
Propionic acidemia is caused by changes (mutations) in the PCCA and PCCB genes resulting in a deficiency of the enzyme propionyl-CoA carboxylase. This enzyme is required for the proper breakdown of the amino acids isoleucine, valine, threonine, and methionine.
What is propionic acidemia smell?
It is available by prescription, those with Propionic Acidemia often have carnitine deficiency as carnitine binds to propionic acid in the body. Many children stay on the liquid form for an extended period as the tablets are very large. It can cause a “fishy” odor in a person taking it.
What are common precipitating factors for acute metabolic decompensation associated with propionic acidemia?
Treat precipitating factors (fever, infection, dehydration, pain, vomiting, and other sources of stress). Determine the need for sepsis workup and antibiotics. Reverse catabolism by giving intravenous glucose and lipids.
What is PA illness?
Propionic acidemia (PA) is a genetic condition in which the body cannot process certain proteins and fats. It is caused by a mutation (change) in an enzyme called propionyl CoA carboxylase. Learn a care plan if your child with PA gets sick. If you need to go to the emergency room, take this with you.
Why does propionic acidemia cause hyperammonemia?
These results suggest that in propionic acidemia, hyperammonemia is triggered by catabolism with the accumulation of propionic acid derivatives.
How do I get rid of propionic acid?
Properties. Propionic acid has physical properties intermediate between those of the smaller carboxylic acids, formic and acetic acids, and the larger fatty acids. It is miscible with water, but can be removed from water by adding salt.
What causes metabolic decompensation?
IEM that cause acute metabolic decompensation can be grouped into disorders of intermediary metabolism (classic IEM), disorders of biosynthesis and breakdown of complex molecules, and disorders of neurotransmitter metabolism (table 1).
What is Argininosuccinic aciduria?
Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.