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Propionic Acidemia Summary

Description: Autosomal recessive metabolic disorder caused by mutations in PROPIONYL-COA CARBOXYLASE genes that result in dysfunction of branch chain amino acids and of the metabolism of certain fatty acids. Neonatal clinical onset is characterized by severe metabolic acidemia accompanied by hyperammonemia, HYPERGLYCEMIA, lethargy, vomiting, HYPOTONIA; and HEPATOMEGALY. Survivors of the neonatal onset propionic acidemia often show developmental retardation, and intolerance to dietary proteins. Late-onset form of the disease shows mild mental and/or developmental retardation, sometimes without metabolic acidemia.

Also Known As: Propionic Aciduria; Propionicaciduria; Acidemia, Propionic; Acidemias, Propionic; Aciduria, Propionic Show All >>

Networked: 310 relevant articles (4 outcomes, 17 trials/studies) for this Disease

Key Drugs and Agents for Propionic Acidemia

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. Carnitine (L-Carnitine) : 1 outcome 3 studies in 15 results : FDA 9 Generic
  2. N-carbamylglutamate : 1 outcome 1 study in 6 results : IBA
  3. malic acid (malate) : 1 outcome in 1 result : IBA
  4. Methylmalonic acidemia : 5 studies in 77 results : IBA
  5. propionic acid (potassium propionate) : 2 studies in 16 results : IBA
  6. Cytoskeletal Proteins : 2 studies in 2 results : IBA
  7. Methylmalonyl-CoA Decarboxylase (Propionyl CoA Carboxylase) : 1 study in 74 results : IBA
  8. 6-propylchromone-2-carboxylic acid (PCCA) : 1 study in 28 results : IBA
  9. isovaleric Acidemia : 1 study in 16 results : IBA
  10. Isoleucine (L-Isoleucine) : 1 study in 9 results : FDA 31
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Diseases Related to Propionic Acidemia

  1. Hyperammonemia
  2. Maple Syrup Urine Disease
  3. Tyrosinemias (Tyrosinemia)
  4. Metabolic Diseases (Metabolic Disease)
  5. Citrullinemia
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Key Therapies for Propionic Acidemia

Efficacy Chart >>
  1. Liver Transplantation : 1 outcome 2 studies in 14 results
  2. Protein-Restricted Diet (Diet, Protein Restricted) : 5 results
  3. Transplants (Transplant) : 2 results
  4. Peritoneal Dialysis : 2 results
  5. Parenteral Nutrition : 2 results
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