Propionic Acidemia synonyms
What other names are the Propionic Acidemia known by? Synonyms and other terms with which Propionic Acidemia is known.
Propionic Acidemia, also known as Propionic Aciduria or Propionyl-CoA Carboxylase Deficiency, is a rare genetic disorder that affects the body's ability to break down certain proteins and fats. It is classified as an inborn error of metabolism and is inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene for their child to be affected.
Individuals with Propionic Acidemia have a deficiency in the enzyme propionyl-CoA carboxylase, which is responsible for breaking down propionyl-CoA, a molecule produced during the metabolism of certain amino acids and fatty acids. As a result, propionyl-CoA and its byproducts, including propionic acid, accumulate in the body.
The buildup of propionic acid and other toxic substances can lead to a wide range of symptoms and complications. Early signs of Propionic Acidemia may include poor feeding, vomiting, dehydration, and lethargy. As the condition progresses, affected individuals may experience metabolic crises characterized by severe acidosis, hypoglycemia, and neurological symptoms such as seizures, developmental delay, and intellectual disability.
Diagnosis of Propionic Acidemia is typically made through newborn screening, which involves testing a small blood sample for elevated levels of propionylcarnitine. Further diagnostic tests, such as genetic testing and urine organic acid analysis, may be performed to confirm the diagnosis.
Treatment for Propionic Acidemia focuses on managing symptoms and preventing metabolic crises. This often involves a specialized diet low in protein and high in carbohydrates, along with supplements to provide essential nutrients. In some cases, medications may be prescribed to help reduce the production of propionic acid.
Living with Propionic Acidemia can be challenging, but with early diagnosis and appropriate management, individuals with this condition can lead fulfilling lives. Regular monitoring, close medical supervision, and a supportive healthcare team are essential for optimizing outcomes and minimizing complications.
