Propionic acidemia (Encyclopedia of Genetic Disorders)
Propionic acidemia is an inborn error of metabolism: a rare inherited disorder in which the body is unable to break down and use certain proteins properly. As a result, massive amounts of organic compounds (such as propionic acid, ketones, and fatty acids) build up in the blood and urine, interfering with normal body functions and development.
Propionic acidemia, first described in 1961, usually shows up in the first few weeks after birth and, if untreated, results in mental and physical impairment. The disorder can have a broad range of clinical outcomes, ranging from the severe form that is fatal to newborns to the mild, late-onset form associated with periodic attacks of ketoacidosis, when organic compounds build up in the blood and urine. Other names for the disorder include ketotic hyperglycinemia, hyperglycinemia with ketoacidosis and lactic acidosis (propionic type), and propionyl CoA carboxylase (PCC) deficiency, types I and II.
Propionic acidemia can occur in isolation, or it can be a feature of multiple carboxylase deficiency, a condition involving abnormal production of many enzymesll of which need biotin (a form of vitamin B)s the result of an abnormality in biotin metabolism. Propionic acidemia is...
(The entire section is 1397 words.)
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