PROP
MCID: PRP001
MIFTS: 69

Propionic Acidemia (PROP) malady

Metabolic diseases category

Summaries for Propionic Acidemia

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 methylmalonic acidemia and organic acidemia, and has symptoms including hyperammonemia, immunodeficiency/increased susceptibility to infections/recurrent infections and hypoglycemia. 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 heart, 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:63 Propionic acidemia, also known as propionic aciduria, propionyl-CoA carboxylase deficiency and ketotic... more...

Description from OMIM:46 606054

GeneReviews summary for propionic-a

Aliases & Classifications for Propionic Acidemia

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8Disease Ontology, 9diseasecard, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases


Characteristics (Orphanet epidemiological data):

48
propionic acidemia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

propionic acidemia 8 63 19 42 20 22 21 10 44 48 60
ketotic hyperglycinemia 8 63 42 21 44 48
propionyl-coa carboxylase deficiency 8 63 21 48
ketotic glycinemia 8 63 42 21
hyperglycinemia with ketoacidosis and leukopenia 63 42 21
propionicacidemia 9 21 46
pcc deficiency 63 42 21
glycinemia, ketotic 8 42
propionic aciduria 8 48
ketotic ii glycinemia 8
prop 21


External Ids:

Disease Ontology8 DOID:14701
MeSH34 D056693
OMIM46 606054
MESH via Orphanet35 D056693
ICD10 via Orphanet26 E71.1
SNOMED-CT via Orphanet57 124718009, 399149003, 69080001
UMLS via Orphanet61 C0268579, C0311298

Related Diseases for Propionic Acidemia

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Propionic Acidemia family:

Pcca-Related Propionic Acidemia Pccb-Related Propionic Acidemia

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

(show top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1methylmalonic acidemia30.9HMGCL, MMD, MUT
2organic acidemia30.4HMGCL, HLCS
3beta-ketothiolase deficiency30.3HMGCL
4isovaleric acidemia30.1HMGCL, ACADSB
5maple syrup urine disease30.1OTC, HMGCL, MMD
6hyperlysinemia30.1PC, OTC
7metabolic acidosis30.1HLCS, PC, HMGCL
8glycine encephalopathy10.6
9complement deficiency10.5
103-methylcrotonyl-coa carboxylase deficiency10.4
11d-glycericacidemia10.4
12neuropathy10.4
13multiple carboxylase deficiency, propionic acidemia10.4
14diabetic ketoacidosis10.3
15premature ovarian failure10.3
16pcca-related propionic acidemia10.3
17pccb-related propionic acidemia10.3
18early myoclonic encephalopathy10.2
19molluscum contagiosum10.2
20acute pancreatitis10.1
21blepharophimosis, ptosis, and epicanthus inversus syndrome10.1
22noonan syndrome10.1
23pancytopenia10.1
24cystinuria10.1
25neuronitis10.1
26blepharophimosis10.1
27autism spectrum disorder10.1
28dementia10.1
29kidney disease10.1
30long qt syndrome10.1
31lymphopenia10.1
32neutropenia10.1
33optic atrophy10.1
34pancreatitis10.1
35purpura10.1
36pyloric stenosis10.1
37retinopathy of prematurity10.0
38sporotrichosis10.0
39holocarboxylase synthetase deficiency10.0HLCS
40biotinidase deficiency10.0HLCS
41tuberculosis10.0CRAT
42carbamoyl phosphate synthetase i deficiency disease10.0OTC, NAGS
43argininosuccinic aciduria10.0OTC, ASL
44citrullinemia10.0OTC, ASS1, ASL
45hyperargininemia10.0OTC, ASS1, ASL
46ornithine carbamoyltransferase deficiency10.0OTC, ASS1, ASL
47urea cycle disorder10.0ASL, ASS1, NAGS
48orotic aciduria10.0OTC, ASS1, ASL
49lysinuric protein intolerance10.0ASL, ASS1, OTC
50hepatitis10.0OTC, ASL

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



Diseases related to propionic acidemia

Clinical Features for Propionic Acidemia

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Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

606054

Clinical synopsis from OMIM:

606054

Symptoms:

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

Drugs & Therapeutics for Propionic Acidemia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

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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

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Sources:
32MalaCards
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MalaCards organs/tissues related to Propionic Acidemia:

32
Heart, Liver, Brain, B cells, Kidney, Skin, Testes

Animal Models for Propionic Acidemia or affiliated genes

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Publications for Propionic Acidemia

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Sources:
50PubMed
See all sources

Articles related to Propionic Acidemia:

(show top 50)    (show all 199)
idTitleAuthorsYear
1
Propionic Acidemia and Optic Neuropathy: A Report of Two Cases. (23818179)
2013
2
Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia. (23797949)
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
Propionic acidemia: to liver transplant or not to liver transplant? (22332632)
2012
7
Propionic acidemia: neonatal versus selective metabolic screening. (22134541)
2012
8
Chronic management and health supervision of individuals with propionic acidemia. (21963082)
2012
9
Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia. (22334403)
2012
10
Propionic acidemia mimicking diabetic ketoacidosis. (20634010)
2011
11
The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America. (20549364)
2010
12
N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia. (20566609)
2010
13
Late onset optic neuropathy in methylmalonic and propionic acidemia. (19243738)
2009
14
Short-term rescue of neonatal lethality in a mouse model of propionic acidemia by gene therapy. (19025475)
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
Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA. (17966092)
2007
18
Anesthetic management of a 2-year-old male with propionic acidemia. (17121564)
2006
19
Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy. (15939644)
2005
20
Propionic acidemia and zinc deficiency presenting as necrolytic migratory erythema. (15138538)
2004
21
Kinetic characterization of mutations found in propionic acidemia and methylcrotonylglycinuria: evidence for cooperativity in biotin carboxylase. (14960587)
2004
22
The importance of gut motility in the metabolic control of propionic acidemia. (15069406)
2004
23
Propionic acidemia: a neuropathology case report and review of prior cases. (12873194)
2003
24
Functional characterization of PCCA mutations causing propionic acidemia. (12385775)
2002
25
Structure of the PCCA gene and distribution of mutations causing propionic acidemia. (11592820)
2001
26
Propionic acidemia: a rare cause of cardiomyopathy. (11828170)
2001
27
Magnetic resonance spectroscopy (MRS) in five patients with treated propionic acidemia. (10862057)
2000
28
Identification of novel mutations in the PCCB gene in European propionic acidemia patients. (10447268)
1999
29
A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci. (9272742)
1997
30
A study of the response to protein-modified diets for propionic acidemia in twelve patients. (7726382)
1994
31
Propionic Acidemia (22593918)
1993
32
A patient with propionic acidemia managed with continuous insulin infusion and total parenteral nutrition. (1588020)
1992
33
Two distinct mutations at the same site in the PCCB gene in propionic acidemia. (2249848)
1990
34
Parenteral nutrition in propionic acidemia and methylmalonic acidemia. (2116511)
1990
35
Substrate disposal in metabolic disease: a comparison between rates of in vivo propionate oxidation and urinary metabolite excretion in children with methylmalonic acidemia. (2809905)
1989
36
Propionate production in methylmalonic acidemia. (2572791)
1989
37
Parenteral nutrition in propionic and methylmalonic acidemia. (2502611)
1989
38
Pancytopenia in propionic acidemia: hematologic evaluation and studies of hematopoiesis in vitro. (3737292)
1986
39
Cerebellar hemorrhage complicating methylmalonic and propionic acidemia. (6497733)
1984
40
Correlation between blood ammonia concentration and organic acid accumulation in isovaleric and propionic acidemia. (7054746)
1982
41
Comparison of cytosolic and mitochondrial enzyme alterations in the livers of propionic or methylmalonic acidemia: a reduction of cytochrome oxidase activity. (6287671)
1982
42
Propionic acidemia: a clinical update. (7031206)
1981
43
Isotope dilution analysis of methylcitric acid in amniotic fluid for the prenatal diagnosis of propionic and methylmalonic acidemia. (7002368)
1980
44
Pitfalls in the prenatal diagnosis of propionic acidemia. (6934053)
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
Propionic acidemia and hyperlysinemia in a case with ornithine transcarbamylase (OTC) deficiency. (977722)
1976
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

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Propionic Acidemia:

62 (show all 43)
id Symbol AA change Variation ID 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

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
29KEGG, 37NCBI BioSystems Database, 53Reactome
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Pathways related to Propionic Acidemia according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8ASL, ASS1
2
Hide members
9.8ASL, ASS1
3
Hide members
9.7PCCA, MUT
49.5MUT, PCCB, PCCA
5
Hide members
9.5MUT, PCCB, PCCA
6
Hide members
9.5PCCA, PCCB, MUT
7
Hide members
9.2MUT, PCCB, PCCA, HMGCL
89.1ASL, ASS1, PC
9
Hide members
9.1NAGS, OTC, ASS1, ASL
10
Hide members
9.1ASL, ASS1, OTC, NAGS
11
Saturated fatty acid biosynthesis
Hide members
9.0HLCS, PCCB, PCCA, PC
12
Hide members
8.7ACADSB, HMGCL, PCCA, PCCB, MUT
138.7NAGS, OTC, ACADSB, ASS1, ASL
14
Hide members
8.5PC, PCCA, PCCB, MUT, HLCS
15
Hide members
8.4ASL, ASS1, ACADSB, OTC, HMGCL, NAGS
16
Hide members
7.6UPB1, HLCS, CRAT, MUT, PCCB, PCCA
17
Hide members
7.5ASL, MUT, PCCB, PCCA, PC, NAGS

Compounds for genes affiliated with Propionic Acidemia

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB, 2BitterDB
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Compounds related to Propionic Acidemia according to GeneCards/GeneDecks:

(show all 39)
idCompoundScoreTop Affiliating Genes
1pcca4410.4PCCA, PCCB
2delta(1)pyrroline-5-carboxylate4410.2ASS1, OTC
3l-citrulline28 1111.2ASS1, OTC
4benzoate4410.2OTC, NAGS
5argininosuccinic acid44 2411.1ASL, ASS1
6guanidinoacetate4410.1ASL, ASS1
7acetyl-l-carnitine449.9OTC, CRAT
8ammonium449.9OTC, ASS1, ASL
9n-acetylglutamate449.8ASL, OTC, NAGS
103-methylcrotonyl-coa44 2410.8PC, HLCS
11propionyl coa449.8PC, PCCA, PCCB
12l-arginine28 11 2411.8ASL, ASS1
13propionate449.7UPB1, MUT, PCCA
14hind iii449.7OTC, CRAT
15phosphoenolpyruvate44 1110.6PC, OTC, ASS1
16sodium benzoate49 210.6ASL, ASS1, OTC, NAGS
17malate449.5ASL, OTC, PC
18citrulline44 2410.3PC, OTC, ASS1, ASL
19lysine449.1OTC, PC, PCCA, HLCS
20citrate449.0CRAT, PC, ASL
21leucine449.0ASS1, OTC, HMGCL, HLCS
22phenylacetic acid49 44 2410.9ASL, ASS1, OTC, NAGS, PC
23Adenosine triphosphate11 249.9HLCS, PCCB, PCCA, PC, ASS1
24carbamoyl phosphate448.9PC, NAGS, OTC, ASS1, ASL
25ornithine44 249.9PC, NAGS, OTC, ASS1, ASL
26biotin44 11 2410.9PC, PCCA, PCCB, MUT, HLCS
27fatty acid448.9HLCS, CRAT, PC, OTC
28urea44 11 2410.9PC, NAGS, OTC, ASS1, ASL
29arginine448.9CRAT, NAGS, OTC, ASS1, ASL
30creatinine448.9CRAT, OTC, ASS1, ASL
31pyruvate448.8HLCS, CRAT, PC, OTC, ASS1
32lactate448.8OTC, PC, CRAT, HLCS
33aspartate448.7CRAT, PC, OTC, ASS1, ASL
34nitric oxide44 11 2410.7CRAT, MUT, OTC, ASS1, ASL
35acyl-coa448.7ACADSB, OTC, PC, CRAT, HLCS
36carnitine448.6HLCS, CRAT, MUT, PC, OTC
37acetyl-coa44 249.4HLCS, CRAT, PC, NAGS, HMGCL, ACADSB
38glutamate448.3CRAT, PC, NAGS, OTC, ASS1, ASL
39atp44 289.3CRAT, MUT, PCCA, PC, OTC, ASS1

GO Terms for genes affiliated with Propionic Acidemia

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Sources:
16Gene Ontology
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Cellular components related to Propionic Acidemia according to GeneCards/GeneDecks:

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

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1arginine biosynthetic processGO:0065269.7ASS1, OTC, NAGS
2response to biotinGO:0707819.6OTC, HLCS
3short-chain fatty acid catabolic processGO:0196269.5MUT, PCCB, PCCA
4fatty acid beta-oxidationGO:0066359.5PCCA, PCCB, MUT
5urea cycleGO:0000509.3ASL, ASS1, OTC, NAGS
6biotin metabolic processGO:0067689.3HLCS, PCCB, PCCA, PC
7water-soluble vitamin metabolic processGO:0067678.7HLCS, MUT, PCCB, PCCA, PC
8cellular lipid metabolic processGO:0442558.7CRAT, MUT, PCCB, PCCA, HMGCL
9vitamin metabolic processGO:0067668.7HLCS, MUT, PCCB, PCCA, PC
10cellular nitrogen compound metabolic processGO:0346418.6NAGS, OTC, ACADSB, ASS1, ASL
11small molecule metabolic processGO:0442815.8ASL, UPB1, HLCS, CRAT, MUT, PCCB

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Propionic Acidemia

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet