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Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems.
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 (hypotonia), and lack of energy (lethargy). These symptoms sometimes progress to more serious medical problems, including heart abnormalities, seizures, coma, and possibly death.
Less commonly, the signs and symptoms of propionic acidemia appear during childhood and may come and go over time. Some affected children experience mental retardation 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 (fasting), fever, or infections.
Propionic acidemia affects about 1 in 100,000 people in the United States. The condition appears to be more common in several populations worldwide, including the Inuit population of Greenland, some Amish communities, and Saudi Arabians.
Mutations in the PCCA and PCCB genes cause propionic acidemia.
The PCCA and PCCB genes provide instructions for making two parts (subunits) of an enzyme called propionyl-CoA carboxylase. This enzyme plays a role in the normal breakdown of proteins. Specifically, it helps process several amino acids, which are the building blocks of proteins. Propionyl-CoA carboxylase also helps break down certain types of fat and cholesterol in the body. Mutations in the PCCA or PCCB gene disrupt the function of the enzyme and prevent the normal breakdown of these molecules. As a result, a substance called propionyl-CoA and other potentially harmful compounds can build up to toxic levels in the body. This buildup damages the brain and nervous system, causing the serious health problems associated with propionic acidemia.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.
'''Propionic acidemia''' is an inherited disorder of Inborn errors of metabolism of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy and death due to a secondary hyperammonemia. Propionis acidemia is inherited in a autosomal recessive pattern and occurs in about 1 in 100,000 live births in the United States. The condition appears to be more common in Saudi Arabia with a frequency of 1 in 2,000 to 5,000 people. Individuals with propionic acidemia are unable to process certain proteins and lipids properly. The condition, which usually appears in early infancy, is characterized by poor feeding, vomiting, weak muscle tone (hypotonia), and lethargy. The effects of propionic acidemia can be life-threatening. Mutations in the PCCA and PCCB genes cause propionic acidemia. The PCCA and PCCB genes make protein subunits that come together to form an enzyme called propionyl-CoA carboxylase. This enzyme is responsible for one step in the breakdown of several amino acids, certain lipids, and cholesterol. Mutations in the PCCA or PCCB gene disrupt the function of the enzyme, preventing these molecules from being broken down. As a result, a substance called propionyl-CoA, proponic acid and other potentially toxic compounds can accumulate, causing the signs and symptoms of propionic acidemia.
eMedicine - An in depth look at Propionic acidemia.
Dr. Greene: Breastfeeding with a Metabolic Disorder and Propionic Acidemia - Breastfeeding a child with propionic acidemia is discussed in this question and answer format.
NORD: Acidemia, Propionic - Includes the synonyms, a general discussion and further resources.
Propionic Acidemia Foundation - The PAF is an organization that funds academic and medical research leading to better treatments and a cure of propionic acidemia, an inborn error of metabolism.