Ketotic Glycinemia
Ketotic Glycinemia 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.
Ketotic Glycinemia Definition
Ketotic glycinemia, also referred to as propionic acidemia, is an autosomal recessive disorder that affects the amino acid production.
Ketotic Glycinemia 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.