Propionic acidemia (PROP)

Gene
PCCB
Location
3q21-q22
Disease
Propionic acidemia (PROP)
Description
Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly.
Signs and Symptoms
Within the first few days of life initial symptoms may arise including 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. This condition can also be caused by mutation in the PCCA gene.
Type
Organic Acid Disorder
Category
Core

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