Propionic+acidemia

=__﻿Propionic Acidemia__= Propionic Acidemia is an organic disorder in which the body is unable to process certain parts of proteins and lipids properly, and abnormal levels of propionic acid build up in the blood and tissues.

PA occurs when an enzyme called “propionyl CoA carboxylase” (PCC) is either missing or not working properly. This enzyme’s job is to change certain amino acids so the body can use them. When this enzyme is not working, substances called glycine and propionic acid, along with other harmful substances, build up in the blood and cause problems.The levels are toxic and cause serious health problems.

It is inherited in an autosomal recessive pattern. An autosomal recessive pattern is a genetic characteristic in which a gene is not able to be expressed unless the responsible allele is carried by both members of a pair of homologous chromosomes. Treatment is life-long and involves appropriate dietary management so that the intake of these amino acids is decreased. In most cases, the features of propionic acidemia become apparent within a few days after birth. The initial symptoms include poor feeding, vomiting, loss of appetite, weak muscle tone, and lack of energy. These symptoms sometimes progress to more serious medical problems, including heart abnormalities, seizures, coma, and possibly death.
 * **What are the signs and symptoms of propionic acidemia?**

Less commonly, the signs and symptoms of propionic acidemia appear during childhood and may come and go over time. Some affected children experience intellectual disability or delayed development. In children with this later-onset form of the condition, episodes of more serious health problems can be triggered by prolonged periods without food, fever, or infections.

Every child is likely to have different effects. Symptoms start the first few days of life or sometime during infancy. Some babys show little to no symptoms. This disease causes episodes of illness called a "metabolic crisis." This is caused by a build-up of propionic acid.
 * **What happens if not treated?**

Universal Newborn Screening


HRSA/MCHB. "Newborn Screening ." //Star G//. HRSA/MCHB, n.d. Web. 9 June 2011. .