What is an Acidemia, Propionic?

April 21 22:24 2019 Print This Article

It is defined as a condition in which there occurs metabolic disorder which affects the branched chain organic acid. It is a rare condition of autosomal recessive disorder. It is also known as the propionic aciduria. It is also referred as the propionyl Co A carboxylase deficiency. It is present in the early neo natal period and involves the progressive encephalopathy. It can also lead to the death by secondary hyper ammonemia, infection, cardio myopathy and the stroke of basal ganglia. It needs two problematic genes to cause PA. There are 25 percent of the chances for the parents to have a child with PA.

What are the signs and symtoms of Acidemia, propionic?

It includes the poor feeding, vomiting, dehydration, acidosis, low muscle tone, seizure and lethargy. These symptoms occur in the newborns. The effects may become life threatening also.

What is the diagnosis of Acidemia, propionic?

It is mainly done with the help of constant monitoring. The individuals which suffer from this disorder do not have the ability to break down the protein and some types of fat. These occur due to the non functioning of enzyme known as the PCC. This is known as the propionyl Co A Carboxylase. If this enzyme is not properly working it may lead to the incomplete processing of 4 essential amino acids. The main amino acids are valine, threonine, methionine and valine. If the protein is too much it can lead to the buildup of propionic acid. It occurs in the blood. It forms a large number of acids and toxins. It damages the organs. The PA can cause injury to the brain, heart and liver. It causes seizures and affects the normal development involving the walking and talking. The affected person must be hospitalized so that the breakdown of proteins must be avoided. The individuals with this order need a specific meal. The dietary needs must be managed by a metabolic dietician and geneticist.

What is the patho physiology of Acidemia, propionic?

In this case there are mutations in the gene of PCCA and PCCB. It leads to the propionic acidaemia. These genes help in the formation of propionyl coA carboxylase. This is known as the PCC. It is used in the normal breakdown of main amino acids and few fatty acids. The main amino acids are valine, threonine, methionine and valine. The mutations in the gene lead to incomplete processing of these amino acids. It may lead to the accumulation of propionic acid, ketone, propionyl coA and some toxic compounds in the blood. It leads to the signs and symptoms of propionic academia.

What is the genetic prevalence of Acidemia, propionic?

It affects 1 in 35,000 births in the United States. It is autosomal recessive in the nature and is inherited. It has the defective gene which is present on the autosome and has two copies of the gene. These copies are from each parent and must be inherited. The carriers are mainly the parents of the children with a copy of defective gene. This disorder is more common in the Saudi Arabia. It occurs in 1 is to 3000 people. It is also common in the Amish and Mennonite population.

What is the treatment of Acidemia, propionic?

There is no specific treatment for this disorder.

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