HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Propionic Acidemia

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:
Acidemia Propionic; Hyperglycinemia With Ketoacidosis And Leukopenia; Propionic Aciduria; Propionicaciduria; Acidemia Propionics; Acidemia, Propionic; Aciduria, Propionic; Carboxylase Deficiencies, Propionyl-CoA; Carboxylase Deficiency, Propionyl-CoA; Deficiencies, Propionyl-CoA Carboxylase; Deficiency, PCC; Deficiency, Propionyl-CoA Carboxylase; Glycinemias, Ketotic; Hyperglycinemia, Ketotic; Hyperglycinemias, Ketotic; Ketotic Glycinemias; Ketotic Hyperglycinemias; PCC Deficiencies; Propionic Acidemias; Propionic Acidurias; Propionic, Acidemia; Propionicacidemias; Propionicacidurias; Propionyl CoA Carboxylase Deficiency; Propionyl-CoA Carboxylase Deficiencies; Glycinemia, Ketotic; Ketotic Glycinemia; Ketotic Hyperglycinemia; PCC Deficiency; Propionicacidemia; Propionyl-CoA Carboxylase Deficiency
Networked: 498 relevant articles (12 outcomes, 34 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Hyperammonemia
2. Methylmalonic acidemia
3. Neurologic Manifestations (Neurological Manifestations)
4. Niemann-Pick Diseases (Niemann Pick Disease)
5. Crigler-Najjar Syndrome

Experts

1. Pérez, Belén: 16 articles (03/2022 - 11/2002)
2. Desviat, Lourdes R: 16 articles (12/2020 - 11/2002)
3. Ugarte, Magdalena: 15 articles (03/2022 - 11/2002)
4. Chapman, Kimberly A: 12 articles (01/2021 - 01/2012)
5. Pérez-Cerdá, Celia: 12 articles (01/2021 - 11/2002)
6. Richard, Eva: 10 articles (01/2021 - 09/2013)
7. Desviat, L R: 10 articles (01/2020 - 09/2001)
8. Wajner, Moacir: 10 articles (01/2020 - 10/2002)
9. Ugarte, M: 9 articles (01/2012 - 09/2001)
10. Pérez, B: 8 articles (01/2016 - 09/2001)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Propionic Acidemia:
1. Carnitine (L-Carnitine)FDA LinkGeneric
2. Proteins (Proteins, Gene)FDA Link
3. N-carbamylglutamateIBA
4. Biomarkers (Surrogate Marker)IBA
5. Isoleucine (L-Isoleucine)FDA Link
6. TransferasesIBA
01/01/2020 - "Macrosomia is an interfering factor for the analytes C3 and C18:1, leading to higher risk of false-positive results for methylmalonic/propionic acidemia and carnitine palmitoyl transferase type 2 deficiency, respectively. "
04/01/2011 - "Sixty-four children (11.6%) were confirmed with IEM by the MS/MS, including 33 cases of methylmalonic acidemia or propionic acidemias, 2 cases of phenylketonuria, 3 cases of carnitine palmotoyl transferase I deficiency, 1 case of long-chain acyl-CoA dehydrogenase deficiency, 2 cases of medium-chain acyl-CoA dehydrogenase deficiency, 6 cases of maple syrup urine disease, 2 cases of short-chain acyl-CoA dehydrogenase deficiency, 2 cases of glutaric acidemia type I, 2 cases of isovaleric acidemia, 2 cases of homocystinuria, 4 cases of carnitine deficiency, 1 case of tyrosinemia, 1 case of argininosuccinic aciduria, 2 cases of citrullinemia and 1 case of argininemia. "
06/01/2004 - "Ten of 104 patients (9.6%) were positive in our selective screening program, including one with tyrosinemia, one with homocystinuria, one with hyperornithinemia, two with methylmalonic acidemia, one with propionic acidemia, one with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, two with medium chain acyl-CoA dehydrogenase deficiency, and one with carnitine palmitoyl transferase type II deficiency. "
01/01/1989 - "Disorders currently under study include Lesch-Nyhan disease, oculocutaneous tyrosinemia, propionic acidemia, carnitine palmityl transferase deficiency, Schwachman-Diamond syndrome, histidinemia, Hartnup disease, citrullinemia, galactosemia, maple syrup urine disease, and methylmalonic acidemia.(ABSTRACT TRUNCATED AT 400 WORDS)"
08/05/2008 - "319 of the 4981 children (6.4%) were diagnosed as with 24 kinds of diseases: 155 of the 319 cases (48.6%) with 8 kinds of amino acid diseases (97 with hyperphenylalaninemia, 14 with maple syrup urine disease 13 with ornithine transcarbamylase deficiency, 13 with citrullinemia type II, 10 with tyrosinemia type I, 5 with citrullinemia type I, 2 with homocystinuria, and 1 with arginasemia); 150 of the 319 cases (47.0%) were diagnosed as with 10 kinds of organic acidemias (81 with methylmalonic acidemia, 17 with propionic acidemia, 17 with multiple CoA carboxylase deficiency, 11 with glutaric acidemia type II, 8 with isovaleric acidemia, 6 with beta-keto thiolase deficiency, 5 with 3-methylcrotonyl-CoA carboxylase deficiency, and 3 with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency); 14 cases (4.4%) were diagnosed as with 6 kinds of fatty acid disorders (5 with medium chain acyl-CoA dehydrogenase deficiency, 3 with very long chain acyl CoA dehydrogenase deficiency, 2 with short chain acyl-CoA dehydrogenase deficiency, 2 with multiple acyl-CoA dehydrogenase deficiency, 1 with carnitine palmitoyl transferase type II, and 1 with carnitine palmitoyl transferase type I). "
7. AntioxidantsIBA
8. Branched-Chain Amino AcidsIBA
9. Valine (L-Valine)FDA Link
10. Leucine (L-Leucine)FDA Link

Therapies and Procedures

1. Liver Transplantation
2. Therapeutics
3. Protein-Restricted Diet (Diet, Protein Restricted)
4. Extracorporeal Membrane Oxygenation
5. Transplantation