PROP
MCID: PRP001
MIFTS: 71

Propionic Acidemia (PROP) malady

Genetic diseases, Rare diseases, Metabolic diseases categories
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Summaries for Propionic Acidemia

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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 based summary: Propionic Acidemia, also known as ketotic hyperglycinemia, is related to methylmalonic acidemia and metabolic acidosis, and has symptoms including constipation, hypoglycemia and hyperammonemia. An important gene associated with Propionic Acidemia is PCCB (propionyl CoA carboxylase, beta polypeptide), and among its related pathways are glutamate degradation X and superpathway of methionine degradation. The compounds pcca and S-Methylmalonyl-CoA have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and brain, and related mouse phenotypes are liver/biliary system and behavior/neurological.

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:65 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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Sources:
8Disease Ontology, 9diseasecard, 65Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Propionic Acidemia, Aliases & Descriptions:

Name: Propionic Acidemia 8 65 19 42 20 22 21 10 44 48 62
Ketotic Hyperglycinemia 8 65 42 21 44 48 62
Propionyl-Coa Carboxylase Deficiency 8 65 42 21 48 62
Ketotic Glycinemia 8 65 42 21
Propionicacidemia 9 42 21 46
Hyperglycinemia with Ketoacidosis and Leukopenia 65 42 21
 
Propionic Aciduria 8 48 62
Pcc Deficiency 65 42 21
Glycinemia, Ketotic 8 42
Prop 42 21
Ketotic Ii Glycinemia 8


Classifications:



Characteristics (Orphanet epidemiological data):

48
propionic acidemia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Child / adolescent


External Ids:

Disease Ontology8 DOID:14701
OMIM46 606054
MeSH34 D056693
MESH via Orphanet35 D056693
ICD10 via Orphanet26 E71.1
UMLS via Orphanet63 C0268579, C0311298

Related Diseases for Propionic Acidemia

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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 56)
idRelated DiseaseScoreTop Affiliating Genes
1methylmalonic acidemia30.5MUT, MMD, HMGCL
2metabolic acidosis30.4HMGCL, HLCS
3maple syrup urine disease30.1MMD, HMGCL, OTC
4glycine encephalopathy10.7
5d-glycericacidemia10.5
6leukopenia10.4
7neuropathy10.4
8multiple carboxylase deficiency, propionic acidemia10.4
9argininosuccinic aciduria10.4OTC
10biotinidase deficiency10.4HLCS
11premature ovarian failure10.3
12diabetic ketoacidosis10.3
13pcca-related propionic acidemia10.3
14pccb-related propionic acidemia10.3
15reye syndrome10.3OTC, HMGCL
16beta-ketothiolase deficiency10.3
17early myoclonic encephalopathy10.3
18ketothiolase deficiency10.3
19atypical glycine encephalopathy10.3
20neonatal glycine encephalopathy10.3
21infantile glycine encephalopathy10.3
22ornithine carbamoyltransferase deficiency10.2ASS1, OTC
23urea cycle disorder10.2NAGS, ASS1
24organic acidemia10.2HLCS, HMGCL
25hyperargininemia10.2ASS1, OTC
26carbamoyl phosphate synthetase i deficiency disease10.2OTC, NAGS
27cystinuria10.2
28dilated cardiomyopathy10.2
29neutropenia10.2
30acute pancreatitis10.2
31hyperlysinemia10.2
32pancytopenia10.2
33neuronitis10.2
34blepharophimosis10.2
35noonan syndrome10.2
36autism spectrum disorder10.2
37dementia10.2
38kidney disease10.2
39long qt syndrome10.2
40lymphopenia10.2
41pancreatitis10.2
42purpura10.2
43pyloric stenosis10.2
44chorea and dementia10.2
45chorea10.2
46sepsis10.2
47recurrent acute pancreatitis10.2
48cardiogenic shock10.2
49citrullinemia10.2ASS1, OTC
50orotic aciduria10.2OTC, ASS1

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



Diseases related to propionic acidemia

Symptoms for Propionic Acidemia

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Symptoms by clinical synopsis from OMIM:

606054

Clinical features from OMIM:

606054

Symptoms:

48 (show all 12)
  • constipation
  • hypoglycemia
  • hyperammonemia
  • aminoacid metabolism anomalies/aminoaciduria
  • hepatomegaly/liver enlargement (excluding storage disease)
  • cardiac rhythm disorder/arrhythmia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • cardiomyopathy/hypertrophic/dilated
  • psychic/behavioural troubles
  • delirium/hallucination
  • psychosis/schizophrenia/maniac disorder

HPO human phenotypes related to Propionic Acidemia:

(show all 46)
id Description Frequency HPO Source Accession
1 hypoglycemia hallmark (90%) HP:0001943
2 hyperammonemia hallmark (90%) HP:0001987
3 constipation hallmark (90%) HP:0002019
4 aminoaciduria hallmark (90%) HP:0003355
5 hepatomegaly typical (50%) HP:0002240
6 abnormality of immune system physiology typical (50%) HP:0010978
7 arrhythmia typical (50%) HP:0011675
8 cognitive impairment typical (50%) HP:0100543
9 hallucinations occasional (7.5%) HP:0000738
10 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
11 cerebellar hemorrhage rare (5%) HP:0011695
12 autosomal recessive inheritance HP:0000007
13 osteoporosis HP:0000939
14 eczema HP:0000964
15 seizures HP:0001250
16 lethargy HP:0001254
17 coma HP:0001259
18 global developmental delay HP:0001263
19 dystonia HP:0001332
20 failure to thrive HP:0001508
21 cardiomyopathy HP:0001638
22 pancreatitis HP:0001733
23 thrombocytopenia HP:0001873
24 neutropenia HP:0001875
25 pancytopenia HP:0001876
26 anemia HP:0001903
27 metabolic acidosis HP:0001942
28 hypoglycemia HP:0001943
29 dehydration HP:0001944
30 hyperammonemia HP:0001987
31 vomiting HP:0002013
32 constipation HP:0002019
33 cerebral atrophy HP:0002059
34 apnea HP:0002104
35 hyperglycinemia HP:0002154
36 hepatomegaly HP:0002240
37 limb hypertonia HP:0002509
38 tachypnea HP:0002789
39 hyperglycinuria HP:0003108
40 lactic acidosis HP:0003128
41 propionyl-coa carboxylase deficiency HP:0003353
42 short stature HP:0004322
43 poor appetite HP:0004396
44 acute encephalopathy HP:0006846
45 feeding difficulties in infancy HP:0008872
46 muscular hypotonia of the trunk HP:0008936

Drugs & Therapeutics for Propionic Acidemia

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Drug clinical trials:

Search ClinicalTrials for Propionic Acidemia

Search NIH Clinical Center for Propionic Acidemia

Genetic Tests for Propionic Acidemia

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Genetic tests related to Propionic Acidemia:

id Genetic test Affiliating Genes
1 Propionic Acidemia20 22

Anatomical Context for Propionic Acidemia

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MalaCards organs/tissues related to Propionic Acidemia:

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

Animal Models for Propionic Acidemia or affiliated genes

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MGI Mouse Phenotypes related to Propionic Acidemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.3MUT, PCCA, HMGCL, OTC
2MP:00053867.7OTC, HMGCL, PCCA, ASS1, MUT, NAGS
3MP:00107687.7OTC, HMGCL, PCCA, ASS1, MUT, NAGS
4MP:00053767.6NAGS, MUT, ASS1, PCCA, HMGCL, OTC

Publications for Propionic Acidemia

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Articles related to Propionic Acidemia:

(show top 50)    (show all 194)
idTitleAuthorsYear
1
Propionic acidemia: diagnosis and neuroimaging findings of this neurometabolic disorder. (24665329)
2014
2
Comment on Zwickler et al.: Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia. (24696407)
2014
3
Intractable metabolic acidosis in a child with propionic acidemia undergoing liver transplantation -a case report-. (24101962)
2013
4
Improved neurologic prognosis for a patient with propionic acidemia who received early living donor liver transplantation. (23151386)
2013
5
Urolithiasis in an infant with propionic acidemia: Questions. (24310822)
2013
6
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. (23305374)
2013
7
Propionic Acidemia and Optic Neuropathy: A Report of Two Cases. (23818179)
2013
8
Living-donor liver transplantation for propionic acidemia. (22151065)
2012
9
Cytotoxic not vasogenic edema is the cause for stroke-like episodes in propionic acidemia. (21959745)
2011
10
Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemia. (21329767)
2011
11
Case report: birth of healthy twins after preimplantation genetic diagnosis of propionic acidemia. (21125326)
2011
12
Changes in plasma amino acid concentrations with increasing age in patients with propionic acidemia. (19795187)
2010
13
High frequency of large genomic deletions in the PCCA gene causing propionic acidemia. (19157943)
2009
14
Stroke-like episodes in propionic acidemia caused by central focal metabolic decompensation. (19809936)
2009
15
Cerebellar hemorrhage in a patient with propionic acidemia. (19468795)
2009
16
Propionic acidemia: case report and review of neurologic sequelae. (19302949)
2009
17
Gene mutation analysis in patients with propionic acidemia]. (19099776)
2008
18
Propionic acidemia manifesting with low isoleucine generalized exfoliative dermatosis. (17958798)
2007
19
Evaluation and management of patients with propionic acidemia undergoing liver transplantation: a comprehensive review. (17032422)
2006
20
New splicing mutations in propionic acidemia. (17051315)
2006
21
Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy. (15939644)
2005
22
Propionic acidemia revisited: a workshop report. (15583780)
2004
23
Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts. (12757933)
2003
24
Neonatal onset propionic acidemia without acidosis: a case report. (12458812)
2002
25
Molecular analysis of PCCB gene in Korean patients with propionic acidemia. (12409268)
2002
26
Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli. (12007220)
2002
27
High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase. (10820128)
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
Infectious complications of propionic acidemia in Saudia Arabia. (9727749)
1998
30
Propionic acidemia in the newborn. (9401259)
1997
31
A novel splicing mutation in propionic acidemia associated with a tetranucleotide direct repeat in the PCCB gene. (7789958)
1995
32
Neuropathology of propionic acidemia: a report of two patients with basal ganglia lesions. (7769173)
1995
33
Correction of the metabolic defect in propionic acidemia fibroblasts by microinjection of a full-length cDNA or RNA transcript encoding the propionyl-CoA carboxylase beta subunit. (8188292)
1994
34
Propionic Acidemia (22593918)
1993
35
The molecular defect in propionic acidemia: exon skipping caused by an 8-bp deletion from an intron in the PCCB allele. (8225321)
1993
36
Genetic heterogeneity of propionic acidemia: analysis of 15 Japanese patients. (2037281)
1991
37
Two distinct mutations at the same site in the PCCB gene in propionic acidemia. (2249848)
1990
38
Metabolic studies of carnitine in a child with propionic acidemia. (2771511)
1989
39
Propionic acidemia--biochemical studies. (2495260)
1989
40
Prenatal diagnosis of propionic acidemia: amniocentesis at the 11th week of pregnancy. (2762239)
1989
41
Pseudo-cystinuria-lysinuria in neonatal propionic acidemia. (3139329)
1988
42
Cerebellar hemorrhage complicating methylmalonic and propionic acidemia. (6497733)
1984
43
Prenatal diagnosis of propionic acidemia. (470045)
1979
44
Evaluation of biotin responsiveness in cultured fibroblasts from patients with propionic acidemia: absence of response by structurally altered carboxylases. (540014)
1979
45
The diagnosis and management of propionic acidemia. (732855)
1978
46
Propionic acidemia with severe hyperammonemia and defective glycine metabolism. (619088)
1978
47
Propionic acidemia and hyperlysinemia in a case with ornithine transcarbamylase (OTC) deficiency. (977722)
1976
48
Effect of 2-methylcitrate on citrate metabolism: implications for the management of patients with propionic acidemia and methylmalonic aciduria. (127973)
1975
49
The oxidation of glycine and propionic acid in propionic acidemia with ketotic hyperglycinemia. (5046977)
1972
50
Isolation and identification of methylcitrate, a major metabolic product of propionate in patients with propionic acidemia. (5016650)
1972

Variations for Propionic Acidemia

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UniProtKB/Swiss-Prot genetic disease variations for Propionic Acidemia:

64 (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

Clinvar genetic disease variations for Propionic Acidemia:

6 (show all 29)
id Gene Name Type Significance SNP ID Assembly Location
1PCCBPCCB, ARG412TRPsingle nucleotide variantPathogenic
2PCCBPCCB, 8-BP DEL, NT3deletionPathogenic
3PCCBPCCB, 12-BP INS, 14-BP DEL, NT1218indelPathogenic
4PCCBNM_000532.4(PCCB): c.1173dupT (p.Val392Cysfs)duplicationPathogenicGRCh37Chr 3, 136045727: 136045727
5PCCBNM_000532.4(PCCB): c.502G> A (p.Glu168Lys)single nucleotide variantPathogenicrs121964960GRCh37Chr 3, 135980866: 135980866
6PCCBNM_000532.4(PCCB): c.1283C> T (p.Thr428Ile)single nucleotide variantPathogenicrs111033542GRCh37Chr 3, 136046081: 136046081
7PCCBNM_000532.4(PCCB): c.1539_1540insCCC (p.Ala513_Arg514insPro)insertionPathogenicrs202247821GRCh37Chr 3, 136048787: 136048788
8PCCBNM_000532.4(PCCB): c.1304A> G (p.Tyr435Cys)single nucleotide variantPathogenicrs121964961GRCh37Chr 3, 136046480: 136046480
9PCCBPCCB, IVS6, A-G, +462single nucleotide variantPathogenic
10PCCAPCCA, 4-BP DEL, 1824IVS, +3deletionPathogenic
11PCCAPCCA, 9-BP DEL, 1771IVS, -2deletionPathogenic
12PCCAPCCA, 2-BP INS, 1824IVS, +3insertionPathogenic
13PCCANM_000282.3(PCCA): c.862A> T (p.Arg288Ter)single nucleotide variantPathogenicrs121964957GRCh37Chr 13, 100920985: 100920985
14PCCANM_000282.3(PCCA): c.1118T> A (p.Met373Lys)single nucleotide variantPathogenicrs121964958GRCh37Chr 13, 100953766: 100953766
15PCCAPCCA, IVS14, A-G, -1416single nucleotide variantPathogenic
16PCCANM_000282.3(PCCA): c.1685C> G (p.Ser562Ter)single nucleotide variantPathogenicrs202247816GRCh37Chr 13, 101020767: 101020767
17PCCANM_000282.3(PCCA): c.412G> A (p.Ala138Thr)single nucleotide variantPathogenicrs202247814GRCh37Chr 13, 100807344: 100807344
18PCCANM_000282.3(PCCA): c.491T> C (p.Ile164Thr)single nucleotide variantPathogenicrs202247815GRCh37Chr 13, 100861608: 100861608
19PCCANM_000282.3(PCCA): c.862A> G (p.Arg288Gly)single nucleotide variantPathogenicrs121964957GRCh37Chr 13, 100920985: 100920985
20PCCANM_000282.3(PCCA): c.937C> T (p.Arg313Ter)single nucleotide variantPathogenicrs138149179GRCh37Chr 13, 100925472: 100925472
21PCCBNM_000532.4(PCCB)indelPathogenicrs397507445GRCh37Chr 3, 136046016: 136046029
22PCCBNM_000532.4(PCCB): c.1228C> T (p.Arg410Trp)single nucleotide variantPathogenicrs121964959GRCh37Chr 3, 136046026: 136046026
23PCCBNM_000532.4(PCCB): c.1495C> T (p.Arg499Ter)single nucleotide variantPathogenicrs202247820GRCh37Chr 3, 136047696: 136047696
24PCCBNM_000532.4(PCCB): c.1534C> T (p.Arg512Cys)single nucleotide variantPathogenicrs186710233GRCh37Chr 3, 136048782: 136048782
25PCCBNM_000532.4(PCCB): c.1556T> C (p.Leu519Pro)single nucleotide variantPathogenicrs202247822GRCh37Chr 3, 136048804: 136048804
26PCCBNM_000532.4(PCCB): c.1606A> G (p.Asn536Asp)single nucleotide variantPathogenicrs202247823GRCh37Chr 3, 136048854: 136048854
27PCCBNM_000532.4(PCCB): c.280G> T (p.Gly94Ter)single nucleotide variantPathogenicrs202247817GRCh37Chr 3, 135974794: 135974794
28PCCBNM_000532.4(PCCB): c.335G> A (p.Gly112Asp)single nucleotide variantPathogenicrs202247818GRCh37Chr 3, 135975428: 135975428
29PCCBNM_000532.4(PCCB): c.457G> C (p.Ala153Pro)single nucleotide variantPathogenicrs202247819GRCh37Chr 3, 135980821: 135980821

Expression for genes affiliated with Propionic Acidemia

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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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Pathways related to Propionic Acidemia according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
glutamate biosynthesis II37
arginine biosynthesis IV37
9.7OTC, ASS1
2
Show member pathways
L-cysteine degradation I37
2-oxoisovalerate decarboxylation to isobutanoyl-CoA37
cysteine biosynthesis III (mammalia)37
2-oxobutanoate degradation I37
9.3MUT, PCCA
3
Show member pathways
citrulline-nitric oxide cycle37
arginine degradation I (arginase pathway)37
proline degradation37
glutamine degradation I37
proline biosynthesis I37
superpathway of citrulline metabolism37
proline biosynthesis II (from arginine)37
citrulline biosynthesis37
arginine degradation VI (arginase 2 pathway)37
Urea cycle and metabolism of amino groups37
asparagine biosynthesis I37
4-hydroxyproline degradation I37
citrulline degradation37
9.2NAGS, ASS1, OTC
4
Show member pathways
creatine-phosphate biosynthesis37
glycine degradation (creatine biosynthesis)37
putrescine biosynthesis III37
spermidine biosynthesis I37
tryptophan degradation via kynurenine37
spermine biosynthesis37
urea cycle37
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I37
tyrosine degradation I37
L-carnitine biosynthesis37
methylthiopropionate biosynthesis37
2-oxoglutarate decarboxylation to succinyl-CoA37
S-methyl-5-thioadenosine degradation II37
9.2OTC, ASS1, NAGS
59.0MUT, PCCB, PCCA
6
Show member pathways
8.7MUT, HMGCL, PCCB, PCCA
7
Show member pathways
beta-alanine degradation I37
valine degradation I37
pyruvate fermentation to lactate37
isoleucine degradation I37
8.7HMGCL, PCCB, MUT, PCCA
88.6MUT, HLCS, PCCB, PCCA
9
Show member pathways
flavin biosynthesis IV (mammalian)37
molybdenum cofactor biosynthesis37
coenzyme A biosynthesis37
thiamin salvage III37
alanine biosynthesis III37
thio-molybdenum cofactor biosynthesis37
biotin-carboxyl carrier protein assembly37
8.6PCCA, PCCB, MUT, HLCS
10
Show member pathways
L-serine degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
7.7PCCA, NAGS, MUT, ASS1, PCCB, OTC
11
Show member pathways
6.3MUT, OTC, HMGCL, PCCA, PCCB, UPB1

Compounds for genes affiliated with Propionic Acidemia

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Sources:
44Novoseek, 24HMDB, 50PharmGKB, 28IUPHAR, 11DrugBank, 2BitterDB
See all sources

Compounds related to Propionic Acidemia according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1pcca4410.2PCCB, PCCA
2S-Methylmalonyl-CoA2410.2PCCB, PCCA
3Methylmalonyl-CoA2410.2PCCB, PCCA
4propionyl coa4410.2PCCB, PCCA
5sodium phenylbutyrate5010.0ASS1, OTC
6delta(1)pyrroline-5-carboxylate4410.0OTC, ASS1
7l-citrulline28 1110.9OTC, ASS1
8ammonium449.9OTC, ASS1
9n-acetylglutamate449.9OTC, NAGS
10benzoate449.9NAGS, OTC
11citrulline44 2410.8OTC, ASS1
12phosphoenolpyruvate44 1110.7OTC, ASS1
13acyl-coa449.6OTC, HLCS
14sodium benzoate50 210.6OTC, ASS1, NAGS
15Phosphate249.6OTC, PCCA, PCCB
16phenylacetic acid50 44 2411.6NAGS, ASS1, OTC
17carbamoyl phosphate449.5NAGS, ASS1, OTC
18ornithine44 2410.5OTC, ASS1, NAGS
19pyruvate449.5OTC, ASS1, HLCS
20urea44 24 1111.4OTC, ASS1, NAGS
21acetyl-coa44 2410.4HLCS, NAGS, HMGCL
22Adenosine triphosphate24 1110.2HLCS, ASS1, PCCB, PCCA
23lysine449.2HLCS, PCCA, OTC
24leucine449.2HLCS, ASS1, HMGCL, OTC
25pyrimidine44 2410.1OTC, UPB1
26carnitine449.1HLCS, MUT, OTC
27propionate449.1PCCA, UPB1, MUT
28biotin44 24 1111.0PCCA, PCCB, MUT, HLCS
29atp44 289.6MUT, ASS1, PCCA, OTC

GO Terms for genes affiliated with Propionic Acidemia

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

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058298.4PCCA, PCCB, UPB1, ASS1, HLCS
2mitochondrionGO:0057397.8OTC, HLCS, MUT, PCCB, HMGCL
3mitochondrial matrixGO:0057597.7PCCB, NAGS, MUT, PCCA, OTC, HMGCL

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1liver developmentGO:0018899.7OTC, HMGCL
2biotin metabolic processGO:0067689.6HLCS, PCCB, PCCA
3response to biotinGO:0707819.5OTC, HLCS
4arginine biosynthetic processGO:0065269.4OTC, NAGS, ASS1
5urea cycleGO:0000509.3OTC, NAGS, ASS1
6short-chain fatty acid catabolic processGO:0196269.3MUT, PCCB, PCCA
7fatty acid beta-oxidationGO:0066359.0MUT, PCCB, PCCA
8cellular nitrogen compound metabolic processGO:0346418.9ASS1, OTC, NAGS
9cellular lipid metabolic processGO:0442558.8MUT, PCCB, PCCA, HMGCL
10water-soluble vitamin metabolic processGO:0067678.7HLCS, MUT, PCCA, PCCB
11vitamin metabolic processGO:0067668.7PCCA, PCCB, MUT, HLCS
12small molecule metabolic processGO:0442816.6PCCA, HLCS, NAGS, MUT, UPB1, ASS1

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

idNameGO IDScoreTop Affiliating Genes
1propionyl-CoA carboxylase activityGO:0046589.8PCCA, PCCB
2biotin bindingGO:0093749.4PCCA, HLCS
3ATP bindingGO:0055249.0PCCA, PCCB, ASS1, HLCS

Products for genes affiliated with Propionic Acidemia

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  • Antibodies
  • Proteins
  • Lysates

Sources for Propionic Acidemia

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet