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:
Propionic Aciduria; Propionicaciduria; Acidemia, Propionic; Acidemias, Propionic; Aciduria, Propionic; Acidurias, Propionic; Carboxylase Deficiencies, Propionyl-CoA; Carboxylase Deficiency, Propionyl-CoA; Deficiencies, PCC; 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; Propionicacidemias; Propionicacidurias; Propionyl CoA Carboxylase Deficiency; Propionyl-CoA Carboxylase Deficiencies; Glycinemia, Ketotic; Ketotic Glycinemia; Ketotic Hyperglycinemia; PCC Deficiency; Propionicacidemia; Propionyl-CoA Carboxylase Deficiency
Networked: 310 relevant articles (4 outcomes, 17 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Hyperammonemia
2. Maple Syrup Urine Disease
3. Tyrosinemias (Tyrosinemia)
4. Metabolic Diseases (Metabolic Disease)
5. Citrullinemia


1. Ugarte, Magdalena: 9 articles (09/2014 - 11/2002)
2. Desviat, Lourdes R: 9 articles (09/2014 - 11/2002)
3. Ugarte, M: 9 articles (01/2012 - 09/2001)
4. Pérez, Belén: 8 articles (09/2014 - 11/2002)
5. Pérez-Cerdá, Celia: 8 articles (01/2014 - 11/2002)
6. Wajner, Moacir: 7 articles (07/2011 - 10/2002)
7. Pérez, B: 7 articles (12/2007 - 09/2001)
8. Desviat, L R: 7 articles (12/2007 - 09/2001)
9. Kasahara, Mureo: 6 articles (12/2013 - 09/2005)
10. Scholl-Bürgi, Sabine: 5 articles (11/2015 - 02/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Propionic Acidemia:
1. Carnitine (L-Carnitine)FDA LinkGeneric
2. N-carbamylglutamateIBA
3. malic acid (malate)IBA
4. Methylmalonic acidemiaIBA
5. propionic acid (potassium propionate)IBA
6. Cytoskeletal ProteinsIBA
7. Methylmalonyl-CoA Decarboxylase (Propionyl CoA Carboxylase)IBA
8. 6-propylchromone-2-carboxylic acid (PCCA)IBA
9. isovaleric AcidemiaIBA
04/01/1996 - "Acylcarnitines in amniotic fluid samples were analyzed for the prenatal diagnosis of propionic acidemia, methylmalonic aciduria, isovaleric acidemia, and glutaric aciduria by electrospray tandem mass spectrometry. "
04/16/2003 - "The organic acidurias include propionic aciduria, methylmalonic aciduria (MMA), isovaleric acidemia, lactic acidemia and glutaric acidemia type I. However, the association of MMA with electrical activity of the brain characterised by a hypsarrhythmic pattern, refractory convulsions and psychomotor retardation is very rare. "
06/10/1992 - "The feasibility of this new and affordable procedure has been confirmed by identifying urinary acylcarnitines in cases of medium-chain acyl-coenzyme A dehydrogenase deficiency, propionic acidemia and isovaleric acidemia."
10/01/2007 - "Among the 166 neonates studied (10 aged 1 day, 79 aged 2-7 days and 77 aged 8-28 days), significant abnormalities on TMS suggestive of IEM were detected in 38 babies (23%), most common diseases diagnosed were maple syrup urine disease (10 neonates), propionic acidemia (8 neonates), urea cycle diseases (6 neonates) and isovaleric acidemia (4 neonates). "
06/01/2008 - "We identified the following disorders: alkaptonuria (ALK)=1, isovaleric acidemia (IVA)=3, propionic acidemia (PA)=2, methylmalonic acidemia (MMA)=3, glutaric aciduria, type I (GA-I)=1, multiple carboxylase deficiency (MCD)=1, and glutaric acidemia, type II (GA-II)=1. OA disorders had never been diagnosed in Thailand before, until GC/MS technology was introduced to Thailand in 2001. "
10. Isoleucine (L-Isoleucine)FDA Link

Therapies and Procedures

1. Liver Transplantation
2. Protein-Restricted Diet (Diet, Protein Restricted)
3. Transplants (Transplant)
4. Peritoneal Dialysis
5. Parenteral Nutrition