It is possible that the main title of the record Acidemia, Propionic is not the name you anticipated. Kindly check the words noting to locate the alternate name(s) as well as problem subdivision(s) covered by this record.
- PCC Shortage
- Propionyl CoA Carboxylase Deficiency
- Ketotic Glycinemia
- Hyperglycinemia with Ketoacidosis as well as Lactic Acidosis, Propionic Type
- Propionic Acidemia, Type I (PCCA Shortage)
- Propionic Acidemia, Type II (PCCB Deficiency)
Propionic Acidemia is an uncommon metabolic problem characterized by shortage of propionyl CoA carboxylase, an enzyme associated with the break down (assimilation) of the chemical “building blocks” (amino acids) of certain healthy proteins. Signs and symptoms most commonly emerged throughout the very first weeks of life and might consist of abnormally reduced muscular tissue tone (hypotonia), bad feeding, throwing up, laziness (sleepiness), extreme loss of liquids from physical cells (dehydration), and also episodes of unrestrained electric task in the mind (seizures). Without suitable treatment, coma and possibly dangerous difficulties might result. In unusual situations, the condition may emerge later throughout infancy and could be connected with less extreme symptoms and searchings for. Propionic Acidemia is inherited as an autosomal recessive characteristic.