PROP
MCID: PRP001
MIFTS: 60

Propionic Acidemia (PROP) malady

Metabolic category

Summaries for Propionic Acidemia

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Propionic acidemia is an organic acid disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly, and abnormal levels of propionic acid build up in the blood and tissues. the levels are toxic and cause serious health problems. in most cases, the features of propionic acidemia become apparent within a few days after birth and include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). these symptoms sometimes progress to more serious medical problems, including heart abnormalities, seizures, coma, and possibly death. it is caused by mutations in the pcca and pccb genes, which provide instructions for making a certain enzyme needed to break down proteins. it is inherited in an autosomal recessive pattern. treatment is life-long and involves appropriate dietary management (to limit intake of certain amino acids) and addressing symptoms during a metabolic crisis. last updated: 3/30/2011

MalaCards: Propionic Acidemia, also known as ketotic hyperglycinemia, is related to beta-ketothiolase deficiency and isovaleric acidemia, and has symptoms including intellectual deficit/mental/psychomotor retardation/learning disability, constipation and hepatomegaly/liver enlargement (excluding storage disease). An important gene associated with Propionic Acidemia is PCCB (propionyl CoA carboxylase, beta polypeptide), and among its related pathways are Alanine, aspartate and glutamate metabolism and glutamine degradation I. The compounds pcca and delta(1)pyrroline-5-carboxylate have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and brain.

Disease Ontology:8 An organic acidemia that involes a nonfunctional propionyl coa carboxylase affecting conversion of aminio acids and fats into sugar for energy.

Genetics Home Reference:21 Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems.

Wikipedia:64 Propionic acidemia, also known as propionic aciduria, propionyl-CoA carboxylase deficiency and ketotic... more...

Description from OMIM:47 606054

GeneReviews summary for propionic-a

Aliases & Classifications for Propionic Acidemia

Sources:
8Disease Ontology, 9diseasecard, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Metabolic


Characteristics (Orphanet epidemiological data):

49
propionic acidemia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

propionic acidemia 8 64 19 43 20 22 21 10 45 49 61
ketotic hyperglycinemia 8 64 43 21 45
ketotic glycinemia 8 64 43 21 49
propionyl-coa carboxylase deficiency 8 64 21 49
hyperglycinemia with ketoacidosis and leukopenia 64 43 21
propionicacidemia 9 21 47
pcc deficiency 64 43 21
glycinemia, ketotic 8 43
ketotic ii glycinemia 8
propionic aciduria 8
prop 21


External Ids:

Disease Ontology8 DOID:14701
MeSH35 D056693
OMIM47 606054
MESH via Orphanet36 D056693
ICD10 via Orphanet26 E71.1
SNOMED-CT via Orphanet58 124718009, 399149003, 69080001
UMLS via Orphanet62 C0268579, C0311298

Related Diseases for Propionic Acidemia

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Propionic Acidemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1beta-ketothiolase deficiency30.3HMGCL
2isovaleric acidemia30.2HMGCL, ACADSB
3maple syrup urine disease30.2OTC, HMGCL, MMD
4hyperlysinemia30.2PC, OTC
5metabolic acidosis30.2HLCS, PC, HMGCL
6glycine encephalopathy10.7
7leukopenia10.4
8d-glycericacidemia10.4
9multiple carboxylase deficiency, propionic acidemia10.4
10diabetic ketoacidosis10.3
11premature ovarian failure10.3
12pcca-related propionic acidemia10.3
13pccb-related propionic acidemia10.3
14early myoclonic encephalopathy10.2
15ketothiolase deficiency10.2
16molluscum contagiosum10.2
17acute pancreatitis10.2
18noonan syndrome10.2
19pancytopenia10.2
20cystinuria10.2
21blepharophimosis10.2
22n syndrome10.2
23autism spectrum disorder10.2
24chorea10.2
25sepsis10.2
26recurrent acute pancreatitis10.2
27cardiogenic shock10.2
28sporotrichosis10.0
29chronic pain10.0
30fainting10.0
31holocarboxylase synthetase deficiency10.0HLCS
32biotinidase deficiency10.0HLCS
33tuberculosis10.0CRAT
34organic acidemia10.0HMGCL, HLCS
35carbamoyl phosphate synthetase i deficiency disease10.0OTC, NAGS
36argininosuccinic aciduria10.0OTC, ASL
37citrullinemia10.0OTC, ASS1, ASL
38hyperargininemia10.0OTC, ASS1, ASL
39ornithine carbamoyltransferase deficiency10.0OTC, ASS1, ASL
40urea cycle disorder10.0ASL, ASS1, NAGS
41orotic aciduria10.0OTC, ASS1, ASL
42lysinuric protein intolerance10.0ASL, ASS1, OTC
43hepatitis10.0OTC, ASL
44methylmalonic acidemia10.0HMGCL, MMD, MUT
45reye syndrome10.0PC, HMGCL, OTC
46multiple carboxylase deficiency10.0HLCS, PC, OTC
47homocystinuria10.0OTC, HMGCL, MMD, MUT
48vitamin b12 deficiency10.0MMD, MUT
49hypoglycemia10.0HMGCL, PC, HLCS
50hyperammonemia multi-gene panels10.0UPB1, PC, NAGS, HMGCL, OTC, ASS1

Graphical network of the top 20 diseases related to Propionic Acidemia:



Diseases related to propionic acidemia

Clinical Features for Propionic Acidemia

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

606054

Clinical synopsis from OMIM:

606054

Symptoms:

49 (show all 9)
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • constipation
  • hepatomegaly/liver enlargement (excluding storage disease)
  • aminoacid metabolism anomalies/aminoaciduria
  • cardiomyopathy/hypertrophic/dilated
  • cardiac rhythm disorder/arrhythmia
  • hypoglycemia
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • hyperammonemia

Drugs & Therapeutics for Propionic Acidemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Propionic Acidemia

Drug clinical trials:

Search ClinicalTrials for Propionic Acidemia

Search NIH Clinical Center for Propionic Acidemia

Search CenterWatch for Propionic Acidemia

Genetic Tests for Propionic Acidemia

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Propionic Acidemia:

id Genetic test Affiliating Genes
1 Propionic Acidemia20 22

Anatomical Context for Propionic Acidemia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Propionic Acidemia:

33
Skin, Liver, Brain, Kidney, Heart, B cells, Fetal brain, Fetal liver

Animal Models for Propionic Acidemia or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Propionic Acidemia

Sources:
51PubMed
See all sources

Articles related to Propionic Acidemia:

(show top 50)    (show all 195)
idTitleAuthorsYear
1
Improved neurologic prognosis for a patient with propionic acidemia who received early living donor liver transplantation. (23151386)
2013
2
Propionic Acidemia and Optic Neuropathy: A Report of Two Cases. (23818179)
2013
3
Late optic neuropathy in propionic acidemia following surgical intervention. (23149616)
2013
4
Reversible diffusion weighted imaging changes in propionic acidemia. (22532545)
2013
5
General anesthesia in an adult female with propionic acidemia: anesthetic considerations. (23090107)
2013
6
Living-donor liver transplantation for propionic acidemia. (22151065)
2012
7
Propionic acidemia: neonatal versus selective metabolic screening. (22134541)
2012
8
Survey of health status and complications among propionic acidemia patients. (22678880)
2012
9
Chronic management and health supervision of individuals with propionic acidemia. (21963082)
2012
10
Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia. (22334403)
2012
11
The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America. (20549364)
2010
12
Spontaneous rapid resolution of acute basal ganglia changes in an untreated infant with propionic acidemia: a clue to pathogenesis? (21445815)
2010
13
N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia. (20566609)
2010
14
High frequency of large genomic deletions in the PCCA gene causing propionic acidemia. (19157943)
2009
15
Gene mutation analysis in patients with propionic acidemia]. (19099776)
2008
16
Prenatal diagnosis of propionic acidemia by measuring methylcitric acid in dried amniotic fluid on filter paper using GC/MS. (18343209)
2008
17
Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia. (18790721)
2008
18
Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA. (17966092)
2007
19
Propionate increases neuronal histone acetylation, but is metabolized oxidatively by glia. Relevance for propionic acidemia. (17286595)
2007
20
Anesthetic management of a 2-year-old male with propionic acidemia. (17121564)
2006
21
Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy. (15939644)
2005
22
Propionic acidemia and zinc deficiency presenting as necrolytic migratory erythema. (15138538)
2004
23
Kinetic characterization of mutations found in propionic acidemia and methylcrotonylglycinuria: evidence for cooperativity in biotin carboxylase. (14960587)
2004
24
Propionic acidemia: a neuropathology case report and review of prior cases. (12873194)
2003
25
Functional characterization of PCCA mutations causing propionic acidemia. (12385775)
2002
26
Structure of the PCCA gene and distribution of mutations causing propionic acidemia. (11592820)
2001
27
Magnetic resonance spectroscopy (MRS) in five patients with treated propionic acidemia. (10862057)
2000
28
Genetic heterogeneity in propionic acidemia patients with alpha- subunit defects: identification of five novel mutations, one of them causing instability of the protein. (10101253)
1999
29
Identification of novel mutations in the PCCB gene in European propionic acidemia patients. (10447268)
1999
30
A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci. (9272742)
1997
31
A patient with propionic acidemia managed with continuous insulin infusion and total parenteral nutrition. (1588020)
1992
32
Two distinct mutations at the same site in the PCCB gene in propionic acidemia. (2249848)
1990
33
An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia. (2154743)
1990
34
Parenteral nutrition in propionic acidemia and methylmalonic acidemia. (2116511)
1990
35
Unequal synthesis and differential degradation of propionyl CoA carboxylase subunits in cells from normal and propionic acidemia patients. (2741949)
1989
36
Prenatal diagnosis of propionic acidemia in chorionic villi by direct assay of propionyl CoA carboxylase. (3362779)
1988
37
Pancytopenia in propionic acidemia: hematologic evaluation and studies of hematopoiesis in vitro. (3737292)
1986
38
Cerebellar hemorrhage complicating methylmalonic and propionic acidemia. (6497733)
1984
39
Correlation between blood ammonia concentration and organic acid accumulation in isovaleric and propionic acidemia. (7054746)
1982
40
Comparison of cytosolic and mitochondrial enzyme alterations in the livers of propionic or methylmalonic acidemia: a reduction of cytochrome oxidase activity. (6287671)
1982
41
Spongy degeneration of the nervous system associated with propionic acidemia. (6965171)
1981
42
Valproate in the treatment of seizures associated with propionic acidemia. (6787556)
1981
43
Propionic acidemia: a clinical update. (7031206)
1981
44
Isotope dilution analysis of methylcitric acid in amniotic fluid for the prenatal diagnosis of propionic and methylmalonic acidemia. (7002368)
1980
45
Evaluation of biotin responsiveness in cultured fibroblasts from patients with propionic acidemia: absence of response by structurally altered carboxylases. (540014)
1979
46
Human propionyl CoA carboxylase: some properties of the partially purified enzyme in fibroblasts from controls and patients with propionic acidemia. (481943)
1979
47
Propionic acidemia with severe hyperammonemia and defective glycine metabolism. (619088)
1978
48
Effect of 2-methylcitrate on citrate metabolism: implications for the management of patients with propionic acidemia and methylmalonic aciduria. (127973)
1975
49
Propionic acidemia: diagnosis by enzyme assay in frozen leukocytes. (4729985)
1973
50
Isolation and identification of methylcitrate, a major metabolic product of propionate in patients with propionic acidemia. (5016650)
1972

Genetic Variations for Propionic Acidemia

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Propionic Acidemia:

63 (show all 43)
id Symbol AA change Variation SNP ID
1PCCAp.Ala75ProVAR_009087
2PCCAp.Arg77TrpVAR_009088
3PCCAp.Ala138ThrVAR_009089
4PCCAp.Ile164ThrVAR_009090
5PCCAp.Met229LysVAR_009091
6PCCAp.Gln297ArgVAR_009092
7PCCAp.Asp368GlyVAR_009093
8PCCAp.Met373LysVAR_009094
9PCCAp.Gly379ValVAR_009095
10PCCAp.Arg399GlnVAR_009096
11PCCAp.Pro423LeuVAR_009097
12PCCAp.Trp559LeuVAR_009099rs118169528
13PCCAp.Gly631ArgVAR_009100
14PCCAp.Gly668ArgVAR_009101
15PCCAp.Gly197GluVAR_023843
16PCCAp.Cys398ArgVAR_023844
17PCCBp.Arg44ProVAR_000271
18PCCBp.Ser106ArgVAR_000272
19PCCBp.Gly131ArgVAR_000273
20PCCBp.Arg165TrpVAR_000274
21PCCBp.Glu168LysVAR_000275
22PCCBp.Gly198AspVAR_000276
23PCCBp.Arg410TrpVAR_000278
24PCCBp.Ala497ValVAR_000279rs142403318
25PCCBp.Arg512CysVAR_000280rs186710233
26PCCBp.Leu519ProVAR_000281
27PCCBp.Leu17MetVAR_009080
28PCCBp.Val205AspVAR_009082
29PCCBp.Pro228LeuVAR_009083
30PCCBp.Thr428IleVAR_009084rs28934887
31PCCBp.Met442ThrVAR_009085
32PCCBp.Asn536AspVAR_009086
33PCCBp.Arg67SerVAR_023847
34PCCBp.Val107MetVAR_023848
35PCCBp.Gly112AspVAR_023849
36PCCBp.Ala153ProVAR_023850
37PCCBp.Arg165GlnVAR_023851
38PCCBp.Gly188ArgVAR_023852
39PCCBp.Gly246ValVAR_023853
40PCCBp.Ile430LeuVAR_023855
41PCCBp.Tyr435CysVAR_023856
42PCCBp.Tyr439CysVAR_023857
43PCCBp.Ala468ThrVAR_023858

Expression for genes affiliated with Propionic Acidemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Propionic Acidemia

Search GEO for disease gene expression data for Propionic Acidemia.

Pathways for genes affiliated with Propionic Acidemia

Sources:
30KEGG, 38NCBI BioSystems Database, 54Reactome
See all sources

Pathways related to Propionic Acidemia according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8ASS1, ASL
2
Hide members
9.8ASL, ASS1
3
Hide members
9.7PCCA, MUT
49.5MUT, PCCB, PCCA
5
Hide members
9.5PCCB, PCCA, MUT
6
Hide members
9.5PCCA, PCCB, MUT
7
Hide members
9.2MUT, PCCB, PCCA, HMGCL
89.1ASS1, ASL, PC
9
Hide members
9.1NAGS, OTC, ASS1, ASL
10
Hide members
9.1ASL, NAGS, OTC, ASS1
11
Saturated fatty acid biosynthesis
Hide members
9.0PCCB, HLCS, PC, PCCA
12
Hide members
8.7MUT, PCCB, HMGCL, ACADSB, PCCA
138.7ASL, OTC, ASS1, ACADSB, NAGS
14
Hide members
8.5HLCS, PCCA, PCCB, MUT, PC
15
Hide members
8.4OTC, HMGCL, ACADSB, ASS1, NAGS, ASL
16
Hide members
7.6CRAT, HLCS, MUT, PCCB, PCCA, PC
17
Hide members
7.5ASS1, ASL, OTC, NAGS, PC, PCCA

Compounds for genes affiliated with Propionic Acidemia

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 50PharmGKB, 2BitterDB
See all sources

Compounds related to Propionic Acidemia according to GeneCards/GeneDecks:

(show all 39)
idCompoundScoreTop Affiliating Genes
1pcca4510.4PCCA, PCCB
2delta(1)pyrroline-5-carboxylate4510.2ASS1, OTC
3l-citrulline29 1111.2ASS1, OTC
4benzoate4510.2OTC, NAGS
5argininosuccinic acid45 2411.1ASL, ASS1
6guanidinoacetate4510.1ASL, ASS1
7acetyl-l-carnitine459.9OTC, CRAT
8ammonium459.9OTC, ASS1, ASL
9n-acetylglutamate459.8ASL, OTC, NAGS
103-methylcrotonyl-coa45 2410.8PC, HLCS
11propionyl coa459.8PC, PCCA, PCCB
12l-arginine29 11 2411.8ASL, ASS1
13propionate459.7UPB1, MUT, PCCA
14hind iii459.7OTC, CRAT
15phosphoenolpyruvate45 1110.6PC, OTC, ASS1
16sodium benzoate50 210.6ASL, ASS1, OTC, NAGS
17malate459.5ASL, OTC, PC
18citrulline45 2410.3PC, OTC, ASS1, ASL
19lysine459.1OTC, PC, PCCA, HLCS
20citrate459.0CRAT, PC, ASL
21leucine459.0ASS1, OTC, HMGCL, HLCS
22phenylacetic acid50 45 2410.9ASL, ASS1, OTC, NAGS, PC
23Adenosine triphosphate11 249.9HLCS, PCCB, PCCA, PC, ASS1
24carbamoyl phosphate458.9PC, NAGS, OTC, ASS1, ASL
25ornithine45 249.9PC, NAGS, OTC, ASS1, ASL
26biotin45 11 2410.9PC, PCCA, PCCB, MUT, HLCS
27fatty acid458.9HLCS, CRAT, PC, OTC
28urea45 11 2410.9PC, NAGS, OTC, ASS1, ASL
29arginine458.9CRAT, NAGS, OTC, ASS1, ASL
30creatinine458.9CRAT, OTC, ASS1, ASL
31pyruvate458.8HLCS, CRAT, PC, OTC, ASS1
32lactate458.8OTC, PC, CRAT, HLCS
33aspartate458.7CRAT, PC, OTC, ASS1, ASL
34nitric oxide45 11 2410.7CRAT, MUT, OTC, ASS1, ASL
35acyl-coa458.7ACADSB, OTC, PC, CRAT, HLCS
36carnitine458.6HLCS, CRAT, MUT, PC, OTC
37acetyl-coa45 249.4HLCS, CRAT, PC, NAGS, HMGCL, ACADSB
38glutamate458.3CRAT, PC, NAGS, OTC, ASS1, ASL
39atp45 299.3CRAT, MUT, PCCA, PC, OTC, ASS1

GO Terms for genes affiliated with Propionic Acidemia

Sources:
16Gene Ontology
See all sources

Cellular components related to Propionic Acidemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057438.5HMGCL, OTC, CRAT, PC
2cytosolGO:0058298.0HLCS, PCCB, PCCA, PC, ASS1, ASL
3mitochondrial matrixGO:0057597.5OTC, MUT, PCCB, PCCA, PC, NAGS
4mitochondrionGO:0057397.1ACADSB, HMGCL, OTC, PC, HLCS, CRAT

Biological processes related to Propionic Acidemia according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1arginine biosynthetic processGO:0065269.7NAGS, ASS1, OTC
2response to biotinGO:0707819.6OTC, HLCS
3short-chain fatty acid catabolic processGO:0196269.5PCCB, MUT, PCCA
4fatty acid beta-oxidationGO:0066359.5PCCB, MUT, PCCA
5urea cycleGO:0000509.3ASS1, ASL, OTC, NAGS
6biotin metabolic processGO:0067689.3HLCS, PCCB, PCCA, PC
7water-soluble vitamin metabolic processGO:0067678.7MUT, HLCS, PCCA, PC, PCCB
8cellular lipid metabolic processGO:0442558.7HMGCL, CRAT, MUT, PCCA, PCCB
9vitamin metabolic processGO:0067668.7PCCB, HLCS, MUT, PCCA, PC
10cellular nitrogen compound metabolic processGO:0346418.6ASL, NAGS, OTC, ASS1, ACADSB
11small molecule metabolic processGO:0442815.8ASL, ASS1, ACADSB, OTC, HMGCL, NAGS

Molecular functions related to Propionic Acidemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1propionyl-CoA carboxylase activityGO:0046589.7PCCA, PCCB
2biotin carboxylase activityGO:0040759.6PC, PCCA
3biotin bindingGO:0093749.2PC, PCCA, HLCS

Products for genes affiliated with Propionic Acidemia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Propionic Acidemia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet