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Propionic acidemia is an inherited condition in which the body can't breakdown certain parts of proteins and fats Propionic acidemia is an autosomal recessive metabolic disorder caused by defective functioning in the mitochondrial enzyme propionyl coa carboxylase (pcc), resulting in the accumulation of propionic acid metabolites, and dysfunction in the respiratory chain and urea cycle pathways. In many cases, propionic acidemia can damage the brain, heart, kidney, liver, cause seizures and delays to normal development such as walking or talking
The accumulation of propionic acid is known to induce differential responses in different organs. 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. Learn about propionic acidemia, including symptoms, causes, and treatments
If you or a loved one is affected by this condition, visit nord to find resources.
The propionic acidemia foundation is dedicated to finding improved treatments and a cure for propionic acidemia by funding research and providing information and support to families and medical professionals. Propionic acidemia is a disease that varies in severity and age at onset, even within families Symptoms of propionic acidemia usually begin within a few days after birth and may include1 • lethargy (lack of energy) and/or irritability • hypotonia (low muscle tone) • poor feeding/lack of appetite
Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly
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