MCID: PRP084
MIFTS: 54

Propionicacidemia malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Summaries for Propionicacidemia

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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 based summary: Propionicacidemia, also known as propionic acidemia, is related to glycine encephalopathy and methylmalonic acidemia, and has symptoms including hypoglycemia, hyperammonemia and constipation. An important gene associated with Propionicacidemia is PCCA (propionyl CoA carboxylase, alpha polypeptide), and among its related pathways are Fatty acid, triacylglycerol, and ketone body metabolism and Disease. The compounds pcca and propionyl coa have been mentioned in the context of this disorder. Affiliated tissues include heart and liver.

Disease Ontology:10 An organic acidemia that involes a nonfunctional propionyl coa carboxylase affecting conversion of aminio acids and fats into sugar for energy.

Genetics Home Reference:23 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.

Description from OMIM:47 606054

GeneReviews summary for propionic-a

Aliases & Classifications for Propionicacidemia

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Sources:
47OMIM, 11diseasecard, 43NIH Rare Diseases, 23Genetics Home Reference, 10Disease Ontology, 65Wikipedia, 21GeneReviews, 22GeneTests, 12DISEASES, 45Novoseek, 49Orphanet, 24GTR, 35MeSH, 62UMLS, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Propionicacidemia, Aliases & Descriptions:

Name: Propionicacidemia 47 11 43 23
Propionic Acidemia 47 10 65 21 43 22 23 12 45 49 24
Ketotic Hyperglycinemia 10 65 43 23 45 49
Propionyl-Coa Carboxylase Deficiency 10 65 43 23 49
Ketotic Glycinemia 10 65 43 23
Hyperglycinemia with Ketoacidosis and Leukopenia 65 43 23
 
Propionic Aciduria 10 43 49
Pcc Deficiency 65 43 23
Glycinemia, Ketotic 10 43
Prop 43 23
Ketotic Ii Glycinemia 10


Classifications:



Characteristics (Orphanet epidemiological data):

49
propionic acidemia:
Inheritance: Autosomal recessive; Prevalence: >1/1000 (Canada),1-9/100000 (Worldwide),1-9/1000000 (Europe),1-9/1000000 (Italy),1-9/100000 (Germany),1-5/10000 (Saudi Arabia),1-9/100000 (Japan),1-9/100000 (Korea, Republic of); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood


External Ids:

OMIM47 606054
Disease Ontology10 DOID:14701
MeSH35 D056693
Orphanet49 35
MESH via Orphanet36 D056693
ICD10 via Orphanet28 E71.1
UMLS via Orphanet63 C0268579, C0311298

Related Diseases for Propionicacidemia

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Graphical network of the top 20 diseases related to Propionicacidemia:



Diseases related to propionicacidemia

Symptoms for Propionicacidemia

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Symptoms by clinical synopsis from OMIM:

606054

Clinical features from OMIM:

606054

Symptoms:

 49 (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 Propionicacidemia:

(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 Propionicacidemia

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Drug clinical trials:

Search ClinicalTrials for Propionicacidemia

Search NIH Clinical Center for Propionicacidemia

Genetic Tests for Propionicacidemia

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Genetic tests related to Propionicacidemia:

id Genetic test Affiliating Genes
1 Propionic Acidemia22 24

Anatomical Context for Propionicacidemia

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MalaCards organs/tissues related to Propionicacidemia:

33
Heart, Liver

Animal Models for Propionicacidemia or affiliated genes

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Publications for Propionicacidemia

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Articles related to Propionicacidemia:

idTitleAuthorsYear
1
Propionicacidemia: absence of alpha-chain mRNA in fibroblasts from patients of the pccA complementation group. (3687944)
1987

Variations for Propionicacidemia

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UniProtKB/Swiss-Prot genetic disease variations for Propionicacidemia:

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 Propionicacidemia:

7 (show all 29)
id Gene Variation 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 Propionicacidemia

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Search GEO for disease gene expression data for Propionicacidemia.

Pathways for genes affiliated with Propionicacidemia

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Pathways related to Propionicacidemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1PCCA, PCCB
29.1PCCA, PCCB
3
Show member pathways
L-serine degradation38
pentose phosphate pathway (oxidative branch)38
formaldehyde oxidation II (glutathione-dependent)38
9.1PCCB, PCCA
4
Show member pathways
flavin biosynthesis IV (mammalian)38
molybdenum cofactor biosynthesis38
coenzyme A biosynthesis38
thiamin salvage III38
alanine biosynthesis III38
thio-molybdenum cofactor biosynthesis38
biotin-carboxyl carrier protein assembly38
9.1PCCA, PCCB
5
Show member pathways
beta-alanine degradation I38
valine degradation I38
pyruvate fermentation to lactate38
isoleucine degradation I38
9.1PCCA, PCCB
69.1PCCA, PCCB

Compounds for genes affiliated with Propionicacidemia

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Sources:
45Novoseek, 26HMDB, 13DrugBank, 30IUPHAR
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Compounds related to Propionicacidemia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1pcca459.3PCCA, PCCB
2propionyl coa459.3PCCA, PCCB
3Methylmalonyl-CoA269.3PCCA, PCCB
4S-Methylmalonyl-CoA269.2PCCA, PCCB
5Propionyl-CoA269.2PCCB, PCCA
6biotin45 26 1311.1PCCA, PCCB
7Adenosine triphosphate26 1310.1PCCA, PCCB
8Phosphate269.0PCCA, PCCB
9adp45 30 2610.8PCCA, PCCB

GO Terms for genes affiliated with Propionicacidemia

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Cellular components related to Propionicacidemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00057599.1PCCA, PCCB

Biological processes related to Propionicacidemia according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1short-chain fatty acid catabolic processGO:00196269.3PCCA, PCCB
2biotin metabolic processGO:00067689.2PCCA, PCCB
3fatty acid beta-oxidationGO:00066359.2PCCA, PCCB
4water-soluble vitamin metabolic processGO:00067679.1PCCB, PCCA
5small molecule metabolic processGO:00442819.1PCCA, PCCB
6vitamin metabolic processGO:00067669.0PCCA, PCCB
7cellular lipid metabolic processGO:00442558.8PCCA, PCCB

Molecular functions related to Propionicacidemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ATP bindingGO:00055249.1PCCA, PCCB
2propionyl-CoA carboxylase activityGO:00046588.8PCCA, PCCB

Products for genes affiliated with Propionicacidemia

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Sources for Propionicacidemia

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet