Propionic acidemia (PROP)

Gene
PCCA
Location
13q32
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
The disoder in most cases start showing up the symptoms a few days after birth, which may include poor feeding of the infant,vomiting,loss of appetite,week muscle tone and lethargy. Sometimes the symptoms may progress andcause more serious helthy probmlems like abnormalities of the heart,seizures,coma and even may lead to death.at childhood the child may show interlectual disability and delayed development.mutations of the PCCA gene may result to this disoder.
Type
Organic Acid Disorder
Category
Core

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