MCID: PRP084
MIFTS: 59

Propionicacidemia malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Propionicacidemia

About this section
Sources:
50OMIM, 11Disease Ontology, 69Wikipedia, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Propionicacidemia:

Name: Propionicacidemia 50 46 23 24 12
Propionic Acidemia 50 11 69 22 46 23 24 13 52 25 48 37 66
Ketotic Hyperglycinemia 11 46 24 52 48
Propionyl-Coa Carboxylase Deficiency 11 46 24 52
Ketotic Glycinemia 11 46 24
Pcc Deficiency 69 46 24
Hyperglycinemia with Ketoacidosis and Leukopenia 46 24
Glycinemia, Ketotic 11 46
 
Propionic Aciduria 11 52
Prop 46 24
Propionic Acidemia Type Ii 68
Propionic Acidemia Type I 68
Ketotic Ii Glycinemia 11
Propionicaciduria 66
Pa-1 68
Pa-2 68

Characteristics:

Orphanet epidemiological data:

52
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

HPO:

62
propionicacidemia:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 606054
Disease Ontology11 DOID:14701
ICD1028 E71.121
MeSH37 D056693
NCIt43 C85030
Orphanet52 ORPHA35
ICD10 via Orphanet29 E71.1
MESH via Orphanet38 D056693
UMLS via Orphanet67 C0268579, C0311298

Summaries for Propionicacidemia

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NIH Rare Diseases:46 Propionic acidemia is an inherited condition that occurs when the body is unable to process certain parts of proteins and lipids (fats) properly. as a result, abnormal levels of toxic substances build up in the blood and tissues, which can cause serious health problems. signs and symptoms of the condition generally develop within the firsts few days after birth and may include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). without early diagnosis and treatment, these symptoms may progress to more serious medical problems, such as heart abnormalities, seizures, coma, and possibly death. propionic acidemia is caused by changes (mutations) in the pcca and pccb genes and is inherited in an autosomal recessive manner. treatment generally includes a special diet and addressing symptoms during a metabolic crisis. last updated: 12/2/2015

MalaCards based summary: Propionicacidemia, also known as propionic acidemia, is related to glycine encephalopathy and d-glycericacidemia, and has symptoms including hypoglycemia, hyperammonemia and constipation. An important gene associated with Propionicacidemia is PCCA (Propionyl-CoA Carboxylase Alpha Subunit), and among its related pathways are Defects in biotin (Btn) metabolism and Arginine biosynthesis. Affiliated tissues include heart and skin, and related mouse phenotypes are renal/urinary system and liver/biliary system.

Disease Ontology:11 An organic acidemia that involes a nonfunctional propionyl coa carboxylase affecting conversion of aminio acids and fats into sugar for energy.

UniProtKB/Swiss-Prot:68 Propionic acidemia type I: Life-threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein.

Genetics Home Reference:24 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:50 606054

GeneReviews summary for NBK92946

Related Diseases for Propionicacidemia

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Diseases related to Propionicacidemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
idRelated DiseaseScoreTop Affiliating Genes
1glycine encephalopathy12.2
2d-glycericacidemia11.2
3atypical glycine encephalopathy11.2
4neonatal glycine encephalopathy11.2
5infantile glycine encephalopathy11.2
6pcca-related propionic acidemia10.9
7pccb-related propionic acidemia10.9
8teratocarcinoma10.4
9lichen disease10.4HLCS, PCCB
10wagr syndrome10.4ASS1, OTC
11deafness, autosomal dominant 1010.4ASS1, OTC
12encephalopathy10.4
13orotic aciduria10.3ASS1, OTC
14shwachman-diamond syndrome10.3ASS1, OTC
15atrioventricular block10.2HLCS, PCCA, PCCB
16chromosome xp21 deletion syndrome10.2ASS1, OTC
17myopathy, myofibrillar, 210.2ACAD8, ACADM
18acyl-coa dehydrogenase, medium chain, deficiency of10.2ACADL, ACADM
19leukemia, chronic lymphocytic 310.2ASS1, OTC
20adenylosuccinase lyase deficiency10.2HLCS, HMGCL
21thyroid cancer, nonmedullary, 510.2ACAD8, ACADSB
22biotinidase deficiency10.1ACADM, HLCS, PCCB
23fga-related congenital afibrinogenemia10.1ACADL, ACADM
24maple syrup urine disease, type ii10.1ACADM, HMGCL, OTC
25neural tube defects10.1
26early myoclonic encephalopathy10.1
27ketothiolase deficiency10.1
28dyskeratosis congenita, autosomal recessive 19.9ACADM, ACADSB, HMGCL
29ovarian cancer9.9
30teratoma9.9
31malignant teratoma9.9
32autosomal recessive type iv ehlers-danlos syndrome9.9MUT, PCCA
33atrial fibrillation, familial, 49.9ACADL, ACADM, HLCS
34fatal infantile encephalocardiomyopathy9.8ACADM, HMGCL
35atrophic glossitis9.8ACADM, ASS1, HMGCL, OTC
36waardenburg's syndrome9.6ACADM, MUT, PCCA, PCCB
37body dysmorphic disorder9.3ACADM, HMGCL, MUT, PCCA, PCCB
38propionicacidemia6.1ACAD8, ACADL, ACADM, ACADSB, ASS1, HLCS

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:

 52 (show all 11)
  • intellectual disability
  • global developmental delay
  • cardiomyopathy
  • hypoglycemia
  • hyperammonemia
  • organic aciduria
  • constipation
  • hepatomegaly
  • propionyl-coa carboxylase deficiency
  • abnormality of immune system physiology
  • arrhythmia

HPO human phenotypes related to Propionicacidemia:

(show all 45)
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 osteoporosis HP:0000939
13 eczema HP:0000964
14 seizures HP:0001250
15 lethargy HP:0001254
16 coma HP:0001259
17 global developmental delay HP:0001263
18 dystonia HP:0001332
19 failure to thrive HP:0001508
20 cardiomyopathy HP:0001638
21 pancreatitis HP:0001733
22 thrombocytopenia HP:0001873
23 neutropenia HP:0001875
24 pancytopenia HP:0001876
25 anemia HP:0001903
26 metabolic acidosis HP:0001942
27 hypoglycemia HP:0001943
28 dehydration HP:0001944
29 hyperammonemia HP:0001987
30 vomiting HP:0002013
31 constipation HP:0002019
32 cerebral atrophy HP:0002059
33 apnea HP:0002104
34 hyperglycinemia HP:0002154
35 hepatomegaly HP:0002240
36 limb hypertonia HP:0002509
37 tachypnea HP:0002789
38 hyperglycinuria HP:0003108
39 lactic acidosis HP:0003128
40 propionyl-coa carboxylase deficiency HP:0003353
41 short stature HP:0004322
42 poor appetite HP:0004396
43 acute encephalopathy HP:0006846
44 feeding difficulties in infancy HP:0008872
45 muscular hypotonia of the trunk HP:0008936

UMLS symptoms related to Propionicacidemia:


hepatomegaly, lethargy, seizures, vomiting, decrease in appetite

Drugs & Therapeutics for Propionicacidemia

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Drugs for Propionicacidemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MetronidazolePhase 3438443-48-14173
Synonyms:
1-(2-hydroxy-1-ethyl)-2-methyl-5-nitroimidazole
1-(2-hydroxyethyl)-2-methyl-5-nitroimidazole
1-(beta-Ethylol)-2-methyl-5-nitro-3-azapyrrole
1-(beta-Hydroxyethyl)-2-methyl-5-nitroimidazole
1-(beta-Oxyethyl)-2-methyl-5-nitroimidazole
1-(β-ethylol)-2-methyl-5-nitro-3-azapyrrole
1-(β-hydroxyethyl)-2-methyl-5-nitroimidazole
1-(β-oxyethyl)-2-methyl-5-nitroimidazole
1-Hydroxyethyl-2-methyl-5-nitroimidazole
2-(2-methyl-5-nitroimidazol-1-yl)ethanol
2-Methyl-5-nitro-1-imidazoleethanol
2-Methyl-5-nitroimidazole-1-ethanol
2-methyl-1-(2-hydroxyethyl)-5-nitroimidazole
2-methyl-3-(2-hydroxyethyl)-4-nitroimidazole
2-methyl-5-nitroimidazole-1-ethanol
443-48-1
46461_FLUKA
46461_RIEDEL
69198-10-3 (mono-hydrochloride)
99616-64-5
AB00052046
AC-10556
AC1L1HKS
AC1Q2P2Z
AKOS000269646
APMN
ARONIS24285
Acromona
Anagiardil
Apo-Metronidazole
Arilin
Atrivyl
BAS 02983617
BAY-5360
BCBcMAP01_000184
BIDD:GT0107
BPBio1_000004
BRD-K52020312-001-05-2
BRN 0611683
BSPBio_000002
BSPBio_002031
Bayer 5360
Bexon
Bio-0694
CAS-443-48-1
CB-01-14 MMX
CCRIS 410
CHEBI:39845
CHEBI:6909
CHEMBL137
CID4173
CONT
CPD000058175
Caswell No. 579AA
Clont
D00409
DB00916
Danizol
Deflamon
Deflamon-wirkstoff
DivK1c_000007
EINECS 207-136-1
EPA Pesticide Chemical Code 120401
Efloran
Elyzol
Entizol
Eumin
FLAGYL I.V. RTU IN PLASTIC CONTAINER
Flagemona
Flagesol
Flagil
Flagyl
Flagyl (TN)
Flagyl 375
Flagyl Er
Flagyl I.V.
Flagyl I.V. RTU
Flegyl
Florazole
Fossyol
Giatricol
Ginefla vir
Gineflavir
HMS1568A04
HMS1920N19
HMS2051G07
HMS2090B19
HMS2091F14
HMS500A09
HMS547C19
HSDB 3129
I14-0667
IDI1_000007
IDR-90105
KBio1_000007
KBio2_001515
KBio2_004083
KBio2_006651
KBio3_001531
KBioGR_000559
KBioSS_001515
Klion
Klont
LS-1264
M0924
M1547_SIGMA
M3761_FLUKA
M3761_SIGMA
M9036_SIGMA
METRO I.V
METRONIDAZOLE USP
MLS000028590
MLS000758286
Maybridge1_001999
Meronidal
Methronidazole
Methyl-5-nitroimidazole-1-ethanol
 
Metric
Metric 21
Metro Cream
Metro Gel
Metro I.V.
Metro I.V. In Plastic Container
MetroCream
MetroGel
MetroGel-Vaginal
MetroLotion
Metrodzhil
Metrogel-vaginal (TN)
Metrogyl
Metrolag
Metrolyl
Metromidol
Metronidaz
Metronidazol
Metronidazol [INN-Spanish]
Metronidazole (JP15/USP/INN)
Metronidazole Benzoate
Metronidazole Monohydrochloride
Metronidazole Phosphoester
Metronidazole [USAN:INN:BAN:JAN]
Metronidazole in Plastic Container
Metronidazolo
Metronidazolo [DCIT]
Metronidazolum
Metronidazolum [INN-Latin]
Metrotop
Metrozine
Metryl
Mexibol
Mexibol 'silanes'
MolPort-000-141-892
MolPort-002-502-101
Monagyl
Monasin
NCGC00016446-01
NCGC00016446-02
NCGC00022059-03
NCGC00022059-04
NCGC00022059-05
NCIOpen2_000337
NIDA
NINDS_000007
NSC 50364
NSC 69587
NSC-50364
NSC50364
NSC69587
Nalox
Nidagel
Noritate
Noritate (TN)
Novonidazol
Orvagil
Prestwick0_000081
Prestwick1_000081
Prestwick2_000081
Prestwick3_000081
Prestwick_334
Protostat
RP 8823
RP-8823
Rathimed
Rosased
S1907_Selleck
SAM001247010
SBB041018
SC 10295
SMP1_000189
SMR000058175
SPBio_000666
SPBio_001941
SPECTRUM1500412
STK177359
Sanatrichom
Satric
Spectrum2_000883
Spectrum3_000506
Spectrum4_000060
Spectrum5_001289
Spectrum_001035
Takimetol
Trichazol
Trichex
Tricho cordes
Tricho-gynaedron
Trichocide
Trichomol
Trichomonacid 'pharmachim'
Trichopal
Trichopol
Tricocet
Tricom
Tricowas B
Trikacide
Trikamon
Trikojol
Trikozol
Trimeks
Trivazol
UNII-140QMO216E
Vagilen
Vagimid
Vandazole
Vertisal
WLN: T5N CNJ A2Q B1 ENW
WLN: T5N CNJA2Q B1 ENW
WLN: T6NTJ DQ ANU1- ET5N CNJ A1 BNW
Wagitran
ZERO/004064
ZINC00113442
Zadstat
Zidoval
giniflavir
metronidazole
neo-Tric
2
HydroxocobalaminPhase 323613422-51-011953898, 5460373, 44475014
Synonyms:
13422-51-0
22465-48-1
78091-12-0
8017-22-9
Acti-B12
AlphaRedisol
AlphaRedisol (TN)
Axion
Axlon
Benzimidazolyl ribofuranosyl phosphate deriv.
C08230
C62H85CoN13O15P
CHEBI:27786
CHEMBL1200742
CHEMBL235822
CID11622291
CID11953898
CID5460373
CID6433575
CID6474319
Ciplamin H
Coalpha-[alpha-(5,6-dimethylbenzimidazolyl)]-Cobeta-hydroxocobamide
Cobalex
Cobalin H
Cobinamide dihydroxide dihydrogen phosphate (ester), mono(inner salt), 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-a-D-ribofuranosylbenzimidazole inner salt
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole inner salt
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-alpha-delta-ribofuranosylbenzimidazole inner salt
Cobinamide, Co-hydroxy-, dihydrogen phosphate (ester), inner salt, 3'-ester with (5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole-kappaN3)
Cobinamide, Co-hydroxy-, f-(dihydrogen phosphate), inner salt, 3'-ester with (5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole-kappaN3)
Cobinamide, dihydroxide, dihydrogen phosphate (ester), mono (inner salt), 3'- ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole
Cobinamide, dihydroxide, dihydrogen phosphate (ester), mono(inner salt), 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole
Cobinamide, hydroxide, dihydrogen phosphate (ester), inner salt, 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole
Codroxomin
Cyanokit
Cyanokit (TN)
D01027
DB00200
Depogamma
Docclan
Docelan
Docelvita
Docevita
Droxomin
Ducobee Hy
Ducobee-Hy
Duradoce
Duralta-12
EINECS 236-533-2
HSDB 3342
HYDROXOCOBALAMIN
Hidroxocobalamina
Hidroxocobalamina [INN-Spanish]
Hydro Cobex
 
Hydrobamine
Hydrocobalamin
Hydrogrisevit
Hydrovit
Hydroxocobalamin
Hydroxocobalamin (JAN/USP/INN)
Hydroxocobalamin Vitamin B12
Hydroxocobalamin [USAN:INN:BAN:JAN]
Hydroxocobalamin acetate
Hydroxocobalamin anhydrous
Hydroxocobalamin monohydrochloride
Hydroxocobalamin(alkaline soln.), OH- replaces CN- in Cyanocobalamin)
Hydroxocobalaminacetat
Hydroxocobalamine
Hydroxocobalamine [INN-French]
Hydroxocobalaminum
Hydroxocobalaminum [INN-Latin]
Hydroxocobalaminum anhydrous
Hydroxocobemine
Hydroxomin
Hydroxy Cobal
Hydroxy vitamin B12
Hydroxycob(lll)alamin
Hydroxycobalamin
Hydroxycobalamine
Hyxobamine
Idrogrisevit
Idrossocobalamina
Idrossocobalamina [DCIT]
LS-54607
Lyovit-H
Neo-Betalin 12
Neo-cytamen
Neo-macrabin
Neo-rojamin
OH-Cbl
OH-Duphar
Ohb12
Oxobemin
Oxolamine (arcum)
Primabalt RP
Redisol-H
S1668_Selleck
Sytobex-H
UNII-Q40X8H422O
Vibeden
Vitadurin
Vitamin B(sub 12a)
Vitamin B-12b
Vitamin B12a
Vitamin B12b
a-(5,6-Dimethylbenzimidazolyl)hydroxocobamide
alpha Cobione
alpha-(5,6-Dimethylbenzimidazolyl)hydroxocobamide
vitamin B-12b
3
BiotinNutraceuticalPhase 34058-85-5171548
Synonyms:
(+)-Biotin
(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valerate
(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid
(3AS,4S,6ar)-hexahydro-2-oxo-1H-thieno[3,4-D]imidazole-4-valeric acid
(3aS,4S,6aR)-Hexahydro-2-oxo-1H-thieno[3,4-D]imidazole-4-valerate
(3aS,4S,6aR)-Hexahydro-2-oxo-1H-thieno[3,4-D]imidazole-4-valeric acid
-(+)-biotin
1swk
1swn
1swr
5-(2-Oxohexahydro-1H-thieno[3,4-D]imidazol-4-yl)pentanoate
5-(2-Oxohexahydro-1H-thieno[3,4-D]imidazol-4-yl)pentanoic acid
Biodermatin
Bioepiderm
Bios II
Bios h
Biotin
Biotina
Biotine
Biotinum
Coenzyme R
D(+)-Biotin
 
D-(+)-Biotin
D-Biotin
D-Biotin factor S
Factor S
Factor S (vitamin)
Hexahydro-2-oxo-1H-thieno(3,4-D)imidazole-4-pentanoate
Hexahydro-2-oxo-1H-thieno(3,4-D)imidazole-4-pentanoic acid
Hexahydro-2-oxo-[3aS-(3aa,4b,6aa)]-1H-Thieno[3,4-D]imidazole-4-pentanoate
Hexahydro-2-oxo-[3aS-(3aa,4b,6aa)]-1H-Thieno[3,4-D]imidazole-4-pentanoic acid
Hexahydro-2-oxo-[3as-(3alpha,4beta,6alpha)]-1H-Thieno[3,4-D]imidazole-4-pentanoate
Hexahydro-2-oxo-[3as-(3alpha,4beta,6alpha)]-1H-Thieno[3,4-D]imidazole-4-pentanoic acid
Lutavit H2
Meribin
Rovimix H 2
Vitamin B7
Vitamin H
Vitamin-h
cis-(+)-Tetrahydro-2-oxothieno[3,4]imidazoline-4-valerate
cis-(+)-Tetrahydro-2-oxothieno[3,4]imidazoline-4-valeric acid
cis-Hexahydro-2-oxo-1H-thieno(3,4)imidazole-4-valeric acid
cis-Tetrahydro-2-oxothieno(3,4-D)imidazoline-4-valeric acid
delta-(+)-Biotin
delta-Biotin
delta-Biotin factor S
4Vitamin B12NutraceuticalPhase 3237
5
MethylcobalaminNutraceuticalPhase 323713422-55-4
Synonyms:
Algobaz
Co-Methylcobalamin
Co-methylcobalamin
Hitocobamin M
MeCbl
Mecobalamin
Methycobal
 
Methyl cobalamine
Methyl vitamin B12
Methyl-5,6-dimethylbenzimidazolylcobalamin
Methyl-B12
Methylcob(III)alamin
Methylcobalamin
Methylcobaz
mecobalamin
methyl(III)cobalamin
6carnitineNutraceuticalPhase 3152
7
cobalaminNutraceuticalPhase 323713408-78-16438156
Synonyms:
5,6-Dimethyl-1-a-D-ribofuranosyl-1H-benzimidazole
5,6-Dimethyl-1-a-D-ribofuranosylbenzimidazole
5,6-Dimethyl-1-alpha-delta-ribofuranosyl-1H-benzimidazole
5,6-Dimethyl-1-alpha-delta-ribofuranosylbenzimidazole
Cob(III)alamin
Cobalamin (III)
Cobalamine
 
Cobinamide ion(1+) dihydrogen phosphate (ester) inner salt 3'-ester
Cobinamide ion(1+) dihydrogen phosphate (ester) inner salt 3'-ester with 5,6-dimethyl-1-alpha-delta-ribofuranosyl-1H-benzimidazole
Hydroxomin
Rubivite
Rubratope-57
Rubratope-60
Ruvite
Vitamin B12
8
CyanocobalaminNutraceuticalPhase 323768-19-944176380
Synonyms:
Anacobin
Bedoz
Berocca PN
Berubigen
Betalin 12
Betalin 12 Crystalline
Betaline-12
Betolvex
Bevidox
Bevidox concentrate
Biocobalamine
Byladoce
Cabadon m
Cernevit-12
Cobadoce forte
Cobalin
Cobavite
Cobex
Cobolin-M
Copharvit 5000
Covit
Crystamin
Crystamine
Crysti-12
Crystimin
Crystwel
Cyano-B12
Cyanobalamin concentrate
Cyanocob(III)alamin
Cyanocobalamin (JP15/USP)
Cyanocobalamin Co 57 Schilling Test Kit
Cyanocobalamine
Cyanocobalmin
Cyanoject
Cycobemin
Cycolamin
Cykobemin
Cykobeminet
Cyomin
Cyredin
Cytacon
Cytamen
Cytobion
Depinar
Dicopac
Dicopac Kit
Dimethylbenzimidazoylcobamide
Distivit
Docemine
Docibin
Docivit
Dodecabee
Dodecavite
Dodex
Duodecibin
Embiol
Emociclina
Eritrone
Erycytol
 
Erythrotin
Euhaemon
Extrinsic factor
Factor II
Fermin
Fresmin
Hemomin
Hepagon
Hepavis
Hepcovite
Hylugel plus
Infuvite Pediatric
Lactobacillus lactis dorner factor
M.V.I. Pediatric
Macrabin
Megabion
Megalovel
Milbedoce
Millevit
Nagravon
Nascobal
Nascobal (TN)
Neuroforte-R
Normocytin
Novidroxin
Pernaemon
Pernaevit
Pernipuron
Plecyamin
Poyamin
Primabalt
Rebramin
Redamina
Redisol
Rhodacryst
Rubesol
Rubivite
Rubramin
Rubramin PC
Rubratope-57 Kit
Rubratope-60 Kit
Rubripca
Rubrocitol
Ruvite
Shovite
Sytobex
Vi-Twel
Vibal
Vibalt
Vibisone
Virubra
Vita-rubra
Vitabee 12
Vitamin B12
Vitamin B12 Preparation
Vitamin B12 complex
Vitaped
Vitarubin
Vitral
vitamine b12
9
ornithineNutraceuticalPhase 2, Phase 16770-26-86262
Synonyms:
(+)-S-Ornithine
(S)-2,5-Diaminopentanoate
(S)-2,5-Diaminopentanoic acid
(S)-2,5-diaminovaleric acid
(S)-Ornithine
(S)-a,D-Diaminovalerate
 
(S)-a,D-Diaminovaleric acid
(S)-alpha,delta-Diaminovaleric acid
(S)-ornithine
(S)-α,δ-diaminovaleric acid
5-Amino-L-Norvaline
L-(-)-Ornithine
L-Ornithine
10
Citric AcidPhase 1106377-92-9311
Synonyms:
2-Hydroxy-1,2,3-propanetricarboxylate
2-Hydroxy-1,2,3-propanetricarboxylic acid
2-Hydroxytricarballylic acid
3-Carboxy-3-hydroxypentane-1,5-dioate
3-Carboxy-3-hydroxypentane-1,5-dioic acid
Aciletten
Anhydrous citrate
Anhydrous citric acid
Chemfill
Citraclean
 
Citrate
Citretten
Citric acid
Citro
Citronensäure
E 330
Hydrocerol A
Kyselina citronova
Suby G
Uro-trainer
beta-Hydroxytricarballylate
beta-Hydroxytricarballylic acid
11glutamineNutraceuticalPhase 1147
12CitrateNutraceuticalPhase 11063

Interventional clinical trials:

idNameStatusNCT IDPhase
1Carglumic Acid in Methylmalonic Acidemia and Propionic AcidemiaRecruitingNCT02426775Phase 3
2Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young InfantsCompletedNCT01624311Phase 2
3Short-term Outcome of N-Carbamylglutamate in the Treatment of Acute HyperammonemiaRecruitingNCT01599286Phase 2
4Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic AcidemiaTerminatedNCT01597440Phase 2
5Increasing Ureagenesis in Inborn Errors of Metabolism With N-CarbamylglutamateWithdrawnNCT01341379Phase 2
6Anaplerotic Therapy in Propionic AcidemiaCompletedNCT00645879Phase 1
7Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic AcidemiaRecruitingNCT02890342

Search NIH Clinical Center for Propionicacidemia


Cochrane evidence based reviews: propionic acidemia

Genetic Tests for Propionicacidemia

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Genetic tests related to Propionicacidemia:

id Genetic test Affiliating Genes
1 Propionic Acidemia25 23

Anatomical Context for Propionicacidemia

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MalaCards organs/tissues related to Propionicacidemia:

34
Heart, Skin

Animal Models for Propionicacidemia or affiliated genes

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MGI Mouse Phenotypes related to Propionicacidemia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.0ACAD8, ACADL, MUT, OTC, PCCA
2MP:00053707.9ACAD8, ACADL, ACADM, HMGCL, MUT, OTC
3MP:00053767.2ACAD8, ACADL, ACADM, ASS1, HMGCL, MUT
4MP:00107686.5ACADL, ACADM, ASS1, HMGCL, MUT, OTC

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
2
Propionate metabolism by cultured skin fibroblasts from normal individuals and patients with methylmalonicaciduria and propionicacidemia. (7295302)
1981
3
Biotin-response organicaciduria. Multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts. (115903)
1979
4
Propionicacidemia (ketotic hyperglycinemia): dietary treatment resulting in normal growth and development. (4815259)
1974
5
Activation of propionyl-CoA carboxylase in skin fibroblasts from a patient with propionicacidemia. (5131830)
1971
6
Propionicacidemia, a new inborn error of metabolism. (5727920)
1968

Variations for Propionicacidemia

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UniProtKB/Swiss-Prot genetic disease variations for Propionicacidemia:

68 (show all 43)
id Symbol AA change Variation ID SNP ID
1PCCAp.Ala75ProVAR_009087rs794727479
2PCCAp.Arg77TrpVAR_009088rs141371306
3PCCAp.Ala138ThrVAR_009089rs202247814
4PCCAp.Ile164ThrVAR_009090rs202247815
5PCCAp.Met229LysVAR_009091
6PCCAp.Gln297ArgVAR_009092
7PCCAp.Asp368GlyVAR_009093
8PCCAp.Met373LysVAR_009094rs121964958
9PCCAp.Gly379ValVAR_009095rs794727087
10PCCAp.Arg399GlnVAR_009096
11PCCAp.Pro423LeuVAR_009097
12PCCAp.Trp559LeuVAR_009099rs118169528
13PCCAp.Gly631ArgVAR_009100rs796052018
14PCCAp.Gly668ArgVAR_009101rs771438170
15PCCAp.Gly197GluVAR_023843
16PCCAp.Cys398ArgVAR_023844
17PCCBp.Arg44ProVAR_000271
18PCCBp.Ser106ArgVAR_000272
19PCCBp.Gly131ArgVAR_000273
20PCCBp.Arg165TrpVAR_000274
21PCCBp.Glu168LysVAR_000275rs121964960
22PCCBp.Gly198AspVAR_000276rs762354873
23PCCBp.Arg410TrpVAR_000278rs121964959
24PCCBp.Ala497ValVAR_000279rs142403318
25PCCBp.Arg512CysVAR_000280rs186710233
26PCCBp.Leu519ProVAR_000281rs202247822
27PCCBp.Leu17MetVAR_009080rs200185747
28PCCBp.Val205AspVAR_009082
29PCCBp.Pro228LeuVAR_009083rs374722096
30PCCBp.Thr428IleVAR_009084rs28934887
31PCCBp.Met442ThrVAR_009085
32PCCBp.Asn536AspVAR_009086rs202247823
33PCCBp.Arg67SerVAR_023847
34PCCBp.Val107MetVAR_023848
35PCCBp.Gly112AspVAR_023849rs202247818
36PCCBp.Ala153ProVAR_023850rs202247819
37PCCBp.Arg165GlnVAR_023851
38PCCBp.Gly188ArgVAR_023852rs746102997
39PCCBp.Gly246ValVAR_023853
40PCCBp.Ile430LeuVAR_023855
41PCCBp.Tyr435CysVAR_023856rs121964961
42PCCBp.Tyr439CysVAR_023857rs769521436
43PCCBp.Ala468ThrVAR_023858rs775563122

Clinvar genetic disease variations for Propionicacidemia:

5 (show all 67)
id Gene Variation Type Significance SNP ID Assembly Location
1PCCBNM_000532.4(PCCB): c.1228C> T (p.Arg410Trp)single nucleotide variantPathogenicrs121964959GRCh38Chr 3, 136327184: 136327184
2PCCBPCCB, 8-BP DEL, NT3deletionPathogenic
3PCCBPCCB, 12-BP INS, 14-BP DEL, NT1218indelPathogenic
4PCCBNM_000532.4(PCCB): c.1173dupT (p.Val392Cysfs)duplicationPathogenicrs587776758GRCh37Chr 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
16PCCBNG_008939.1: g.883_8934del8052deletionPathogenicGRCh37Chr 3, 135965049: 135973100
17PCCBNM_000532.4(PCCB): c.990dupT (p.Glu331Terfs)duplicationPathogenicrs786200983GRCh37Chr 3, 136035806: 136035806
18PCCANM_000282.3(PCCA): c.775_779delCTAAT (p.Leu259Argfs)deletionPathogenicrs794726976GRCh37Chr 13, 100915041: 100915045
19PCCBNM_000532.4(PCCB): c.1398+1G> Tsingle nucleotide variantPathogenicrs794727092GRCh37Chr 3, 136046575: 136046575
20PCCANM_000282.3(PCCA): c.1788G> A (p.Trp596Ter)single nucleotide variantPathogenicrs776496862GRCh37Chr 13, 101077928: 101077928
21PCCANM_000282.3(PCCA): c.1899+4_1899+7delAGTAdeletionPathogenicrs794727334GRCh37Chr 13, 101101563: 101101566
22PCCANM_000282.3(PCCA): c.232-1G> Asingle nucleotide variantPathogenicrs794727620GRCh37Chr 13, 100764246: 100764246
23PCCBNM_000532.4(PCCB): c.418_429dupAAGATCTGCAAA (p.Lys143_Ile144insLysIleCysLys)duplicationPathogenicrs797044729GRCh37Chr 3, 135979366: 135979377
24PCCBNM_000532.4(PCCB): c.683C> T (p.Pro228Leu)single nucleotide variantPathogenicrs374722096GRCh37Chr 3, 136012626: 136012626
25PCCBNM_000532.4(PCCB): c.1210G> A (p.Glu404Lys)single nucleotide variantPathogenicrs777027944GRCh38Chr 3, 136327166: 136327166
26PCCBNM_000532.4(PCCB): c.372+2T> Csingle nucleotide variantPathogenicGRCh38Chr 3, 136256625: 136256625
27PCCBNM_000532.4(PCCB): c.1540C> T (p.Arg514Ter)single nucleotide variantPathogenicrs749908889GRCh38Chr 3, 136329946: 136329946
28PCCBNM_000532.4(PCCB): c.493C> T (p.Arg165Trp)single nucleotide variantPathogenicGRCh38Chr 3, 136262015: 136262015
29PCCBNM_000532.4(PCCB): c.1498+2T> Csingle nucleotide variantPathogenicGRCh38Chr 3, 136328859: 136328859
30PCCBNM_000532.4(PCCB): c.183+5G> Asingle nucleotide variantPathogenicGRCh38Chr 3, 136250563: 136250563
31PCCANM_000282.3(PCCA): c.284A> G (p.Asp95Gly)single nucleotide variantPathogenicGRCh38Chr 13, 100112045: 100112045
32PCCANM_000282.3(PCCA): c.600+1G> Tsingle nucleotide variantPathogenicGRCh37Chr 13, 100861718: 100861718
33PCCANM_000282.3(PCCA): c.1747-1G> Csingle nucleotide variantPathogenicGRCh38Chr 13, 100425632: 100425632
34PCCANM_000282.3(PCCA): c.105+1G> Asingle nucleotide variantPathogenicGRCh37Chr 13, 100741480: 100741480
35PCCANM_000282.3(PCCA): c.878A> G (p.Gln293Arg)single nucleotide variantPathogenicGRCh37Chr 13, 100921001: 100921001
36PCCANM_000282.3(PCCA): c.2062T> C (p.Cys688Arg)single nucleotide variantPathogenicrs774949844GRCh38Chr 13, 100527696: 100527696
37PCCANM_000282.3(PCCA): c.1190_1193delAATG (p.Glu397Valfs)deletionPathogenicGRCh37Chr 13, 100953838: 100953841
38PCCANM_000282.3: c.1353+5delGTTTAdeletionPathogenic
39PCCANM_000282.3(PCCA): c.2040G> A (p.Ala680=)single nucleotide variantPathogenicrs369982920GRCh38Chr 13, 100515567: 100515567
40PCCANM_000282.3(PCCA): c.184-1G> Asingle nucleotide variantPathogenicGRCh37Chr 13, 100764094: 100764094
41PCCANM_000282.3(PCCA): c.1676G> T (p.Trp559Leu)single nucleotide variantPathogenicrs118169528GRCh38Chr 13, 100368504: 100368504
42PCCANM_000282.3(PCCA): c.431G> T (p.Gly144Val)single nucleotide variantPathogenicGRCh37Chr 13, 100809557: 100809557
43PCCANM_000282.3(PCCA): c.467T> A (p.Leu156Ter)single nucleotide variantPathogenicrs760387660GRCh37Chr 13, 100809593: 100809593
44PCCANM_000282.3(PCCA): c.134_135delTA (p.Leu45Tyrfs)deletionPathogenicGRCh37Chr 13, 100755165: 100755166
45PCCANM_000282.3(PCCA): c.863G> A (p.Arg288Lys)single nucleotide variantPathogenicGRCh38Chr 13, 100268732: 100268732
46PCCANM_000282.3(PCCA): c.548T> G (p.Leu183Ter)single nucleotide variantPathogenicGRCh37Chr 13, 100861665: 100861665
47PCCANM_000282.3(PCCA): c.1426C> T (p.Arg476Ter)single nucleotide variantPathogenicrs768703749GRCh37Chr 13, 100962159: 100962159
48PCCANM_000282.3(PCCA): c.183delAdeletionPathogenicGRCh37Chr 13, 100755214: 100755214
49PCCANM_000282.3(PCCA): c.2002G> A (p.Gly668Arg)single nucleotide variantPathogenicrs771438170GRCh37Chr 13, 101167783: 101167783
50PCCANM_000282.3(PCCA): c.1685C> G (p.Ser562Ter)single nucleotide variantPathogenicrs202247816GRCh37Chr 13, 101020767: 101020767
51PCCANM_000282.3(PCCA): c.412G> A (p.Ala138Thr)single nucleotide variantPathogenicrs202247814GRCh37Chr 13, 100807344: 100807344
52PCCANM_000282.3(PCCA): c.491T> C (p.Ile164Thr)single nucleotide variantPathogenicrs202247815GRCh37Chr 13, 100861608: 100861608
53PCCANM_000282.3(PCCA): c.862A> G (p.Arg288Gly)single nucleotide variantPathogenicrs121964957GRCh37Chr 13, 100920985: 100920985
54PCCANM_000282.3(PCCA): c.937C> T (p.Arg313Ter)single nucleotide variantPathogenicrs138149179GRCh37Chr 13, 100925472: 100925472
55PCCBNM_000532.4(PCCB)indelPathogenicrs397507445GRCh37Chr 3, 136046016: 136046029
56PCCBNM_000532.4(PCCB): c.1495C> T (p.Arg499Ter)single nucleotide variantPathogenicrs202247820GRCh37Chr 3, 136047696: 136047696
57PCCBNM_000532.4(PCCB): c.1534C> T (p.Arg512Cys)single nucleotide variantPathogenicrs186710233GRCh37Chr 3, 136048782: 136048782
58PCCBNM_000532.4(PCCB): c.1556T> C (p.Leu519Pro)single nucleotide variantPathogenicrs202247822GRCh37Chr 3, 136048804: 136048804
59PCCBNM_000532.4(PCCB): c.1606A> G (p.Asn536Asp)single nucleotide variantPathogenicrs202247823GRCh37Chr 3, 136048854: 136048854
60PCCBNM_000532.4(PCCB): c.280G> T (p.Gly94Ter)single nucleotide variantPathogenicrs202247817GRCh37Chr 3, 135974794: 135974794
61PCCBNM_000532.4(PCCB): c.335G> A (p.Gly112Asp)single nucleotide variantPathogenicrs202247818GRCh37Chr 3, 135975428: 135975428
62PCCBNM_000532.4(PCCB): c.457G> C (p.Ala153Pro)single nucleotide variantPathogenicrs202247819GRCh37Chr 3, 135980821: 135980821
63PCCANM_000282.3(PCCA): c.1023dupT (p.Lys342Terfs)duplicationPathogenicrs398123297GRCh37Chr 13, 100925558: 100925558
64PCCBNM_000532.4(PCCB): c.183+1G> Asingle nucleotide variantPathogenicrs398123460GRCh37Chr 3, 135969401: 135969401
65PCCBNM_000532.4(PCCB): c.2T> A (p.Met1Lys)single nucleotide variantPathogenicrs398123462GRCh37Chr 3, 135969219: 135969219
66PCCBNM_000532.4(PCCB): c.386_387delTTinsAAC (p.Phe129Terfs)indelPathogenicrs398123463GRCh37Chr 3, 135979334: 135979335
67PCCBNM_000532.4(PCCB): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicrs398123464GRCh37Chr 3, 135969220: 135969220

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 Suite gene sharing:

(show all 15)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.9PCCA, PCCB
2
Show member pathways
9.8ASS1, OTC
3
Show member pathways
9.8ASS1, OTC
4
Show member pathways
9.6MUT, PCCA
5
Show member pathways
9.5ACADL, ACADM
69.3MUT, PCCA, PCCB
7
Show member pathways
9.3MUT, PCCA, PCCB
8
Show member pathways
9.0ACADL, ACADM, ACADSB
9
Show member pathways
8.9HLCS, MUT, PCCA, PCCB
108.9ACADM, MUT, PCCA, PCCB
11
Show member pathways
8.4ACADL, ACADM, MUT, PCCA, PCCB
12
Show member pathways
8.2ACADM, ASS1, MUT, OTC, PCCA, PCCB
13
Show member pathways
8.1ACADL, ACADM, HMGCL, MUT, PCCA, PCCB
14
Show member pathways
7.6ACAD8, ACADM, ACADSB, HMGCL, MUT, PCCA
15
Show member pathways
6.1ACAD8, ACADL, ACADM, ACADSB, ASS1, HLCS

GO Terms for genes affiliated with Propionicacidemia

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Cellular components related to Propionicacidemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00057597.0ACAD8, ACADL, ACADM, ACADSB, HMGCL, MUT
2mitochondrionGO:00057396.4ACAD8, ACADL, ACADM, ACADSB, HLCS, HMGCL

Biological processes related to Propionicacidemia according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1response to biotinGO:007078110.3HLCS, OTC
2urea cycleGO:000005010.2ASS1, OTC
3response to fatty acidGO:007054210.1ASS1, HMGCL
4response to zinc ionGO:001004310.1ASS1, OTC
5midgut developmentGO:000749410.0ASS1, OTC
6biotin metabolic processGO:000676810.0HLCS, PCCA, PCCB
7carnitine metabolic process, CoA-linkedGO:00192549.9ACADL, ACADM
8short-chain fatty acid catabolic processGO:00196269.9MUT, PCCA, PCCB
9fatty acid beta-oxidationGO:00066359.7ACADL, ACADM
10response to starvationGO:00425949.5ACADM, HMGCL
11branched-chain amino acid catabolic processGO:00090839.4ACAD8, ACADSB
12fatty acid beta-oxidation using acyl-CoA dehydrogenaseGO:00335399.2ACAD8, ACADL, ACADM, ACADSB
13liver developmentGO:00018899.1ACADM, ASS1, HMGCL, OTC
14lipid homeostasisGO:00550888.9ACAD8, ACADL, ACADM, ACADSB

Molecular functions related to Propionicacidemia according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1propionyl-CoA carboxylase activityGO:000465810.4PCCA, PCCB
2biotin bindingGO:000937410.3HLCS, PCCA
3amino acid bindingGO:00165979.8ASS1, OTC
4acyl-CoA dehydrogenase activityGO:00039959.1ACAD8, ACADL, ACADM, ACADSB
5oxidoreductase activity, acting on the CH-CH group of donors, with a flavin as acceptorGO:00528909.1ACAD8, ACADL, ACADM, ACADSB
6fatty-acyl-CoA bindingGO:00000628.7ACAD8, ACADL, ACADM, ACADSB, HMGCL
7electron carrier activityGO:00090558.5ACAD8, ACADL, ACADM, ACADSB
8flavin adenine dinucleotide bindingGO:00506608.3ACAD8, ACADL, ACADM, ACADSB

Sources for Propionicacidemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet