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 cardiomyopathy/hypertrophic/dilated, immunodeficiency/increased susceptibility to infections/recurrent infections and intellectual deficit/mental/psychomotor retardation/learning disability. 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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Sources:
8Disease Ontology, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 9diseasecard, 46OMIM, 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)
  • cardiomyopathy/hypertrophic/dilated
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • cardiac rhythm disorder/arrhythmia
  • hepatomegaly/liver enlargement (excluding storage disease)
  • aminoacid metabolism anomalies/aminoaciduria
  • hyperammonemia
  • hypoglycemia
  • constipation

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, Testes, Skin, Kidney

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
Chronic kidney disease in an adult with propionic acidemia. (23756992)
2014
2
Urolithiasis in an infant with propionic acidemia: Questions. (24310822)
2013
3
Immune Thrombocytopenic Purpura in a Case of Propionic Acidemia: Case Report. (24136030)
2013
4
Urolithiasis in an infant with propionic acidemia: Answer. (24276863)
2013
5
Propionic acidemia consensus conference summary. (21908219)
2012
6
Natural history of propionic acidemia. (21986446)
2012
7
Propionic acidemia in a male newborn with Noonan syndrome: a case report. (22788076)
2012
8
Mutation analysis in 54 propionic acidemia patients. (22033733)
2012
9
45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia? (21549625)
2011
10
Propionic acidemia presenting as diabetic ketoacidosis. (21378435)
2011
11
Overexpression of adapted U1snRNA in patients' cells to correct a 5' splice site mutation in propionic acidemia. (21094621)
2011
12
Functional analysis of a novel mutation in the PCCA gene identified in a late-infantile onset propionic acidemia patient. (20493181)
2010
13
Delayed enhancement cardiac magnetic resonance imaging in propionic acidemia. (20490478)
2010
14
Cerebellar hemorrhage in a patient with propionic acidemia. (19468795)
2009
15
Liver transplantation in a patient with propionic acidemia requiring extra corporeal membrane oxygenation during severe metabolic decompensation. (19207227)
2009
16
N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers. (18414145)
2008
17
Prenatal diagnosis in maternal plasma of a fetal mutation causing propionic acidemia. (18599334)
2008
18
Propionic acidemia manifesting with low isoleucine generalized exfoliative dermatosis. (17958798)
2007
19
Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia. (17236900)
2007
20
Prenatal diagnosis of propionic acidemia. (15614906)
2004
21
Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia. (15059621)
2004
22
Qualitative and quantitative analysis of the effect of splicing mutations in propionic acidemia underlying non-severe phenotypes. (15235904)
2004
23
Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts. (12757933)
2003
24
Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food. (14567967)
2003
25
Molecular analysis of PCCB gene in Korean patients with propionic acidemia. (12409268)
2002
26
Rapid and sensitive method for prenatal diagnosis of propionic acidemia using stable isotope dilution gas chromatography-mass spectrometry and urease pretreatment. (12127327)
2002
27
Propionic acidemia in a four-month-old male: a case study and anesthetic implications. (10910839)
2000
28
Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia. (10329019)
1999
29
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia. (10502773)
1999
30
Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients. (9683601)
1998
31
Parathyroid hormone resistance and B cell lymphopenia in propionic acidemia. (8819559)
1996
32
Neuropathology of propionic acidemia: a report of two patients with basal ganglia lesions. (7769173)
1995
33
Propionic acidemia without acidemia: a case report. (7650559)
1995
34
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
35
Mutations participating in interallelic complementation in propionic acidemia. (8023851)
1994
36
Misidentification of propionic acid as ethylene glycol in a patient with methylmalonic acidemia. (1538288)
1992
37
Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia. (1481826)
1992
38
1H-NMR studies of urine in propionic acidemia and methylmalonic acidemia. (1957637)
1991
39
Metabolic studies of carnitine in a child with propionic acidemia. (2771511)
1989
40
Prenatal diagnosis of propionic acidemia: amniocentesis at the 11th week of pregnancy. (2762239)
1989
41
Adult-onset chorea and dementia with propionic acidemia. (2797456)
1989
42
Pseudo-cystinuria-lysinuria in neonatal propionic acidemia. (3139329)
1988
43
L-carnitine enhances excretion of propionyl coenzyme A as propionylcarnitine in propionic acidemia. (6725560)
1984
44
Protein and essential amino acid requirements in a child with propionic acidemia. (7288063)
1981
45
Failure of the normal ureagenic response to amino acids in organic acid-loaded rats. Proposed mechanism for the hyperammonemia of propionic and methylmalonic acidemia. (7400325)
1980
46
The diagnosis and management of propionic acidemia. (732855)
1978
47
The occurrence of beta-hydroxy-n-valeric acid in a patient with propionic and methylmalonic acidemia. (4730209)
1973
48
Propionic acid, an artefact which can leave methylmalonic acidemia undiscovered. (4772656)
1973
49
The oxidation of glycine and propionic acid in propionic acidemia with ketotic hyperglycinemia. (5046977)
1972
50
Propionate metabolism in cells cultured from a patient with methylmalonic acidemia. (5788784)
1969

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