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Propionic Acidemia

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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

Experts

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 01/01/1999 - "Long term intravenous L-carnitine therapy, administered through a subcutaneous venous access port in 5 patients with organic acidurias [propionic aciduria (2), methylmalonic aciduria (2), 3 methylglutaconic aciduria(1)] resulted in improved growth, lower frequency of metabolic decompensations and increased tolerance of natural protein in the diet. " 07/01/1989 - "Metabolic studies of carnitine in a child with propionic acidemia." 06/01/1984 - "Treatment with L-carnitine greatly enhanced the formation and excretion of short-chain acylcarnitines in three patients with propionic acidemia and in three normal controls. " 05/16/1984 - "Two patients with propionic acidemia (PA) and two patients with methylmalonic aciduria (MMA) had low plasma free carnitine and increased short-chain acylcarnitines. " 11/15/1992 - "We report on 2 women with organic acidemias, one with classical maple syrup urine disease and another with mild propionic acidemia in which protein restricted diets and carnitine supplementation were successfully employed to manage pregnancies. "
2.	N-carbamylglutamateIBA 01/01/2012 - "Short-term outcome of propionic aciduria treated at presentation with N-carbamylglutamate: a retrospective review of four patients." 01/01/2005 - "N-carbamylglutamate protects patients with decompensated propionic aciduria from hyperammonaemia." 04/01/2010 - "The aim of this research letter was to describe the use of N-carbamoyl-L-glutamate as first-line treatment of hyperammonemia in a 4-month-old female patient with propionic acidemia (PA). " 04/01/2010 - "Outpatient treatment of propionic acidemia-associated hyperammonemia with N-carbamoyl-L-glutamate in an infant." 01/01/2012 - "N-carbamylglutamate (NCG) has been reported to decrease ammonia levels in patients with propionic aciduria (PA) and methylmalonic aciduria (MMA), but reports on clinical outcomes remain scant. "
3.	malic acid (malate)IBA 10/01/1991 - "L-Malate may be useful in the treatment of patients with propionic acidemia."
4.	Methylmalonic acidemiaIBA 04/01/1991 - "The present study deals with the usefulness of 1H-NMR spectroscopy in the chemical diagnosis of propionic acidemia and methylmalonic acidemia. " 04/01/1991 - "1H-NMR studies of urine in propionic acidemia and methylmalonic acidemia." 08/01/2015 - "Inherited disorders of branched-chain amino acid (BCAA) metabolism have been associated with supranormal HbF levels beyond infancy, e.g., propionic acidemia (PA) and methylmalonic acidemia (MMA). " 07/24/2015 - "in propionic acidemia and methylmalonic acidemia. " 12/01/2013 - "The clinical presentations of methylmalonic acidemia (MMA) and propionic acidemia (PA) in Japan have not yet been examined in detail. "
5.	propionic acid (potassium propionate)IBA 10/01/2002 - "In the present study, we investigated the effect of chronic administration (from the 5th to the 28th days of life) of propionic acid (PA), the major metabolite accumulating in tissues of patients affected by propionic acidemia, on the cognitive performance of adult rats in the Morris water maze task. " 11/01/1999 - "High levels of propionic acid (PPA) comparable to those of human propionic acidemia were achieved in blood (1-5 mmol/l) and brain (1 micromol/g) of rats by administering saline-buffered propionate (pH 7.4) subcutaneously twice a day from the 6th to the 28th day of life. " 08/01/1986 - "Buffered propionic acid caused concentration-dependent inhibition of mouse CFU-E and human CFU-GM over a range reported in sera of acutely ill infants with propionic acidemia. " 01/01/1978 - "The possibility that it might be a question of other metabolopathies is under discussion, but bio-chemical examination, with discovery of large quantities of propionic acid in urine (51 mcg./ml.) and concentrations of aminoacids in plasma, strongly suggest the diagnosis of a new case of neonatal propionic acidemia." 06/01/2006 - "These results suggest that in propionic acidemia, hyperammonemia is triggered by catabolism with the accumulation of propionic acid derivatives. "
6.	Cytoskeletal ProteinsIBA 07/01/1998 - "This study provides consistent evidence that a decreased phosphorylation of cytoskeletal proteins is induced by MMA and PA metabolites which accumulate in methylmalonic and propionic acidemias respectively. " 10/01/1997 - "This study suggests that PA at the same concentrations found in tissues from propionic acidemic children may alter phosphorylation of cytoskeletal proteins, which may contribute to the neurological dysfunction characteristic of propionic acidemia."
7.	Methylmalonyl-CoA Decarboxylase (Propionyl CoA Carboxylase)IBA 02/28/1980 - "Immunological studies of propionyl CoA carboxylase in livers and fibroblasts of patients with propionic acidemia." 09/01/2014 - "Propionic acidemia (PA) is an autosomal recessive inborn error of metabolism caused by deficiency of propionyl-CoA carboxylase (PCC). " 07/01/2014 - "Propionic acidemia (PA) is a rare autosomal recessive organic aciduria resulting from defects in propionyl-CoA-carboxylase (PCC), a key enzyme of intermediate energy metabolism. " 02/01/2014 - "Propionic acidemia (PA) is caused by a deficiency of propionyl CoA carboxylase. " 09/01/2013 - "Propionic acidemia (PA) is a rare autosomal recessive disorder of metabolism caused by deficient activity of the mitochondrial enzyme propionyl-CoA carboxylase. "
8.	6-propylchromone-2-carboxylic acid (PCCA)IBA 02/01/2015 - "Among Chinese patients with propionic acidemia patients, their genetic mutations are mainly found on the PCCA gene." 02/01/2015 - "To analyze PCCA and PCCB gene mutations in 10 Chinese patients with propionic acidemia(PA). " 02/01/2015 - "[Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia]." 10/01/2014 - "Mutations in the PCCA or PCCB subunit gene may lead to propionic acidemia. " 09/06/2010 - "Functional analysis of a novel mutation in the PCCA gene identified in a late-infantile onset propionic acidemia patient."
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 12/01/1981 - "A study of the ultrastructure of the organs and of cultured fibroblasts incubated with isoleucine from a patient with propionic acidemia." 08/25/2015 - "Elevated urinary 2-EHA in propionyl CoA carboxylase deficiency and methylmalonic aciduria results from a buildup of distal intermediates in the (S) pathway of isoleucine degradation. " 08/01/1994 - "Three patients had propionic acidemia, one had 3-hydroxyisobutyric acidemia, and one had a defect in isoleucine metabolism. " 03/01/1978 - "Abnormal metabolites of isoleucine in a patient with propionyl-CoA carboxylase deficiency." 09/01/2007 - "Propionic acidemia manifesting with low isoleucine generalized exfoliative dermatosis."

Therapies and Procedures

1.	Liver Transplantation 01/01/2013 - "Improved neurologic prognosis for a patient with propionic acidemia who received early living donor liver transplantation." 03/01/2015 - "Early and late complications after liver transplantation for propionic acidemia in children: a two centers study." 09/01/2015 - "Cost-effectiveness of liver transplantation in methylmalonic and propionic acidemias." 05/01/2012 - "Living-donor liver transplantation for propionic acidemia." 06/01/2011 - "Liver transplantation for propionic acidemia in children."
2.	Protein-Restricted Diet (Diet, Protein Restricted) 01/01/1982 - "In one case of propionic acidemia, glycine cleavage activity (5.2 nmole/mg protein/hr) was normal in the liver obtained at biopsy when the patient was well controlled by the treatment with low protein diet (0.8 g/kg/day) and the level of serum glycine was lowered to normal. " 11/15/1992 - "We report on 2 women with organic acidemias, one with classical maple syrup urine disease and another with mild propionic acidemia in which protein restricted diets and carnitine supplementation were successfully employed to manage pregnancies. " 01/01/1982 - "The data suggests that a low protein diet (206 mg nitrogen/kg/day) with adequate energy intake used in managing this child with propionic acidemia provided adequate amounts of total nitrogen and essential amino acids for normal growth regardless of protein distribution." 07/01/1982 - "Only the activity of cytochrome oxidase (mitochondrial enzyme) was significantly reduced in the patients of propionic acidemia and methylmalonic acidemia who were in the state of metabolic acidosis; in two patients the activity was less than 30% of that in controls, but in the other patient of propionic acidemia, who was under the treatment with a low protein diet (0.8 g/kg/day), the activity was 50% of that in controls. " 04/01/1981 - "Propionyl-CoA carboxylase deficiency: case report, effect of low-protein diet and identification of 3-oxo-2-methylvaleric acid 3-hydroxy-2-methylvaleric acid, and maleic acid in urine."
3.	Transplants (Transplant) 05/01/2012 - "Propionic acidemia: to liver transplant or not to liver transplant?" 11/01/2006 - "The medical literature, a national registry of US OLT recipients, and a single institution liver transplant experience were reviewed for cases of OLT for propionic acidemia. "
4.	Peritoneal Dialysis 10/01/1982 - "This case, together with a case previously reported of propionic acidemia with neonatal hyperammoniemia and prolonged survival, demonstrates that complementary treatment by means of exchange transfusion and peritoneal dialysis is mandatory in all cases of neonatal hyperammoniemia of metabolic origin, since survival without irreversible neurological damage is possible." 11/01/1990 - "[Propionic acidemia: report of a case that is successfully managed by peritoneal dialysis and sodium benzoate therapy]."
5.	Parenteral Nutrition 08/01/1990 - "Parenteral nutrition in propionic acidemia and methylmalonic acidemia." 08/01/1989 - "Although propionic acidemia and methylmalonic acidemia, two disorders of branched-chain amino acid metabolism often complicated by chronic anorexia and vomiting, are not usually treated with parenteral nutrition for fear of amino acid overload and exacerbation of biochemical derangements, we gave long-term parenteral nutrition to two critically ill patients with these disorders. "