Definition:
Ketotic glycinemia, also referred to as propionic acidemia, is an autosomal recessive disorder that affects the amino acid production.
Symptoms and Signs:
It is a rare disease that can cause immediate death to newborns due to infection, cardiomyopathy or secondary hyperammonemia. Among the symptoms of the disorder are lethargy, dehydration, vomting and hypotonia.
Causes:
This disease is caused by mutations in the PCC genes that hinder the metabolic processes done by certain enzymes. As a result, the nutrients that is supposed to be metabolized mix with the blood and become toxic.
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