MCID: PRP084
MIFTS: 57

Propionicacidemia malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Aliases & Classifications for Propionicacidemia

About this section
Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 10Disease Ontology, 68Wikipedia, 21GeneReviews, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Propionicacidemia:

Name: Propionicacidemia 49 11 45 22 23
Propionic Acidemia 10 68 21 45 22 23 47 12 51 24 65 36
Ketotic Hyperglycinemia 10 68 45 23 47 51
Propionyl-Coa Carboxylase Deficiency 10 68 45 23 51
Ketotic Glycinemia 10 68 45 23
Hyperglycinemia with Ketoacidosis and Leukopenia 68 45 23
Pcc Deficiency 68 45 23
Glycinemia, Ketotic 10 45
 
Propionic Aciduria 10 51
Prop 45 23
Propionic Acidemia Type Ii 67
Propionic Acidemia Type I 67
Ketotic Ii Glycinemia 10
Propionicaciduria 65
Pa-1 67
Pa-2 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
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:

OMIM49 606054
Disease Ontology10 DOID:14701
MeSH36 D056693
Orphanet51 35
ICD10 via Orphanet28 E71.1
MESH via Orphanet37 D056693
UMLS via Orphanet66 C0268579, C0311298

Summaries for Propionicacidemia

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NIH Rare Diseases:45 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 muscle tissue disease and glycine encephalopathy, 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 Defective HLCS causes multiple carboxylase deficiency and Arginine biosynthesis. Affiliated tissues include heart, liver and skin, and related mouse phenotypes are liver/biliary system and renal/urinary system.

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.

UniProtKB/Swiss-Prot:67 Propionic acidemia type I: Life-threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein.

Description from OMIM:49 606054

GeneReviews summary for propionic-a

Related Diseases for Propionicacidemia

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

(show top 50)    (show all 95)
idRelated DiseaseScoreTop Affiliating Genes
1muscle tissue disease30.1ACADM, HLCS, OTC, PCCB
2glycine encephalopathy10.8
3hyperammonemia10.6
4encephalopathy10.6
5teratocarcinoma10.6
6methylmalonic acidemia10.6
7metabolic acidosis10.5
8neuropathy10.5
9multiple carboxylase deficiency, propionic acidemia10.5
103-methylcrotonyl-coa carboxylase 2 deficiency10.4
11amino acid metabolic disorder10.4
12inborn amino acid metabolism disorder10.4
13cardiomyopathy10.4
14pick disease10.3
15premature ovarian failure10.3
16diabetic ketoacidosis10.3
17nutritional deficiency disease10.3
18organic acidemia10.3
19the organic acidemias: an10.3
20vitamin b12-unresponsive methylmalonic acidemia10.3
21neural tube defects10.3
22early myoclonic encephalopathy10.3
23d-glycericacidemia10.3
24ketothiolase deficiency10.3
25atypical glycine encephalopathy10.3
26neonatal glycine encephalopathy10.3
27infantile glycine encephalopathy10.3
28isolated dandy-walker malformation10.2ASS1, OTC
29cystinuria10.2
30hyperlysinemia10.2
31n-acetylglutamate synthase deficiency10.2
32brain injury10.2
33dilated cardiomyopathy10.2
34neutropenia10.2
35urea cycle disorder10.2
36pancytopenia10.2
37acute pancreatitis10.2
38neuronitis10.2
39blepharophimosis10.2
40lipoid nephrosis10.2
41cardiac arrest10.2
42acquired metabolic disease10.2
43autism spectrum disorder10.2
44congenital heart disease10.2
45dementia10.2
46kidney disease10.2
47lactic acidosis10.2
48long qt syndrome10.2
49lymphopenia10.2
50pancreatitis10.2

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:

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

(show all 16)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MetronidazoleapprovedPhase 3389443-48-14173
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
Metrocream
Metrodzhil
Metrogel
Metrogel-vaginal
Metrogel-vaginal (TN)
Metrogyl
Metrolag
Metrolotion
Metrolyl
Metromidol
Metronidaz
Metronidazol
Metronidazol [INN-Spanish]
Metronidazole
Metronidazole (JP15/USP/INN)
Metronidazole Benzoate
Metronidazole Monohydrochloride
Metronidazole Phosphoester
Metronidazole Topical Gel
Metronidazole [USAN:INN:BAN:JAN]
Metronidazole hydrochloride
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
Rosadan
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
HydroxocobalaminapprovedPhase 321713422-51-011953898, 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 monohydrochloride
Hydroxocobalamin(alkaline soln.), OH- replaces CN- in Cyanocobalamin)
Hydroxocobalaminacetat
Hydroxocobalamine
Hydroxocobalamine [INN-French]
Hydroxocobalaminum
Hydroxocobalaminum [INN-Latin]
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
Cyanocobalaminapproved, nutraceuticalPhase 321768-19-944176380, 44176380, 5462245
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
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
4
Biotinapproved, nutraceuticalPhase 33458-85-5171548
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
5Vitamin B ComplexPhase 32775
6Vitamin B 12Phase 3224
7
MethylcobalaminNutraceuticalPhase 321713422-55-4
Synonyms:
Algobaz
Co-Methylcobalamin
Hitocobamin M
MeCbl
Mecobalamin
Methycobal
 
Methyl cobalamine
Methyl vitamin B12
Methyl-5,6-dimethylbenzimidazolylcobalamin
Methyl-B12
Methylcob(III)alamin
Methylcobalamin
Methylcobaz
8Vitamin B12NutraceuticalPhase 3217
9Vitamin B7NutraceuticalPhase 334
10carnitineNutraceuticalPhase 3138
11
CobalaminNutraceuticalPhase 321713408-78-16438156
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
12
Ornithineapproved, nutraceuticalPhase 2, Phase 13170-26-86262
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
13Glutamic AcidNutraceuticalPhase 2, Phase 1187
14glutamineNutraceuticalPhase 1137
15
Citric AcidnutraceuticalPhase 178477-92-9311
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
16CitrateNutraceuticalPhase 1784

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

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 Acidemia22 24

Anatomical Context for Propionicacidemia

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MalaCards organs/tissues related to Propionicacidemia:

33
Heart, Liver, Skin

Animal Models for Propionicacidemia or affiliated genes

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MGI Mouse Phenotypes related to Propionicacidemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.2ACADL, ACADM, HMGCL, MUT, OTC, PCCA
2MP:00053677.9ACADL, MUT, OTC, PCCA, SLC7A7
3MP:00053766.9ACADL, ACADM, ASS1, HMGCL, MUT, OTC
4MP:00107686.8ACADL, 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:

67 (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:

5 (show all 43)
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)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+7deldeletionPathogenicrs794727334GRCh37Chr 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
25PCCANM_000282.3(PCCA): c.1685C> G (p.Ser562Ter)single nucleotide variantPathogenicrs202247816GRCh37Chr 13, 101020767: 101020767
26PCCANM_000282.3(PCCA): c.412G> A (p.Ala138Thr)single nucleotide variantPathogenicrs202247814GRCh37Chr 13, 100807344: 100807344
27PCCANM_000282.3(PCCA): c.491T> C (p.Ile164Thr)single nucleotide variantPathogenicrs202247815GRCh37Chr 13, 100861608: 100861608
28PCCANM_000282.3(PCCA): c.862A> G (p.Arg288Gly)single nucleotide variantPathogenicrs121964957GRCh37Chr 13, 100920985: 100920985
29PCCANM_000282.3(PCCA): c.937C> T (p.Arg313Ter)single nucleotide variantPathogenicrs138149179GRCh37Chr 13, 100925472: 100925472
30PCCBNM_000532.4(PCCB)indelPathogenicrs397507445GRCh37Chr 3, 136046016: 136046029
31PCCBNM_000532.4(PCCB): c.1228C> T (p.Arg410Trp)single nucleotide variantPathogenicrs121964959GRCh37Chr 3, 136046026: 136046026
32PCCBNM_000532.4(PCCB): c.1495C> T (p.Arg499Ter)single nucleotide variantPathogenicrs202247820GRCh37Chr 3, 136047696: 136047696
33PCCBNM_000532.4(PCCB): c.1534C> T (p.Arg512Cys)single nucleotide variantPathogenicrs186710233GRCh37Chr 3, 136048782: 136048782
34PCCBNM_000532.4(PCCB): c.1556T> C (p.Leu519Pro)single nucleotide variantPathogenicrs202247822GRCh37Chr 3, 136048804: 136048804
35PCCBNM_000532.4(PCCB): c.1606A> G (p.Asn536Asp)single nucleotide variantPathogenicrs202247823GRCh37Chr 3, 136048854: 136048854
36PCCBNM_000532.4(PCCB): c.280G> T (p.Gly94Ter)single nucleotide variantPathogenicrs202247817GRCh37Chr 3, 135974794: 135974794
37PCCBNM_000532.4(PCCB): c.335G> A (p.Gly112Asp)single nucleotide variantPathogenicrs202247818GRCh37Chr 3, 135975428: 135975428
38PCCBNM_000532.4(PCCB): c.457G> C (p.Ala153Pro)single nucleotide variantPathogenicrs202247819GRCh37Chr 3, 135980821: 135980821
39PCCANM_000282.3(PCCA): c.1023dupT (p.Lys342Terfs)duplicationPathogenicrs398123297GRCh37Chr 13, 100925558: 100925558
40PCCBNM_000532.4(PCCB): c.183+1G> Asingle nucleotide variantPathogenicrs398123460GRCh37Chr 3, 135969401: 135969401
41PCCBNM_000532.4(PCCB): c.2T> A (p.Met1Lys)single nucleotide variantPathogenicrs398123462GRCh37Chr 3, 135969219: 135969219
42PCCBNM_000532.4(PCCB): c.386_387delTTinsAAC (p.Phe129Terfs)indelPathogenicrs398123463GRCh37Chr 3, 135979334: 135979335
43PCCBNM_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 14)
idSuper pathways (with members indented)ScoreTop 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
9.3MUT, PCCA, PCCB
69.3MUT, PCCA, PCCB
7
Show member pathways
9.0ACADL, ACADM, ACADSB
8
Show member pathways
8.9HLCS, MUT, PCCA, PCCB
98.9ACADM, MUT, PCCA, PCCB
10
Show member pathways
8.4ACADL, ACADM, MUT, PCCA, PCCB
11
Show member pathways
8.2ACADM, ASS1, MUT, OTC, PCCA, PCCB
12
Show member pathways
8.1ACADL, ACADM, HMGCL, MUT, PCCA, PCCB
13
Show member pathways
7.6ACAD8, ACADM, ACADSB, HMGCL, MUT, PCCA
14
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:00057596.7ACAD8, ACADL, ACADM, ACADSB, HMGCL, MUT
2mitochondrionGO:00057396.1ACAD8, ACADL, ACADM, ACADSB, HLCS, HMGCL

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1response to biotinGO:007078110.5HLCS, OTC
2response to fatty acidGO:007054210.4ASS1, HMGCL
3urea cycleGO:000005010.4ASS1, OTC
4midgut developmentGO:000749410.4ASS1, OTC
5response to zinc ionGO:001004310.4ASS1, OTC
6response to starvationGO:004259410.3ACADM, HMGCL
7biotin metabolic processGO:000676810.2HLCS, PCCA, PCCB
8carnitine metabolic process, CoA-linkedGO:001925410.1ACADL, ACADM
9branched-chain amino acid catabolic processGO:000908310.1ACAD8, ACADSB
10response to nutrientGO:000758410.0ACADM, ASS1, HMGCL
11short-chain fatty acid catabolic processGO:001962610.0MUT, PCCA, PCCB
12liver developmentGO:00018899.6ACADM, ASS1, HMGCL, OTC
13cellular amino acid metabolic processGO:00065209.6OTC, SLC7A7
14vitamin metabolic processGO:00067669.3HLCS, MUT, PCCA, PCCB
15water-soluble vitamin metabolic processGO:00067679.3HLCS, MUT, PCCA, PCCB
16fatty acid beta-oxidation using acyl-CoA dehydrogenaseGO:00335399.3ACAD8, ACADL, ACADM, ACADSB
17lipid homeostasisGO:00550889.2ACAD8, ACADL, ACADM, ACADSB
18cellular nitrogen compound metabolic processGO:00346419.0ACAD8, ACADSB, ASS1, OTC
19fatty acid beta-oxidationGO:00066358.9ACADL, ACADM, MUT, PCCA, PCCB
20oxidation-reduction processGO:00551148.6ACAD8, ACADL, ACADM, ACADSB
21cellular lipid metabolic processGO:00442558.5ACADL, ACADM, HMGCL, MUT, PCCA, PCCB
22metabolic processGO:00081527.1ACAD8, ACADL, ACADM, ACADSB, MUT, PCCA
23small molecule metabolic processGO:00442816.2ACAD8, ACADL, ACADM, ACADSB, ASS1, HLCS

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1biotin bindingGO:000937410.4HLCS, PCCA
2propionyl-CoA carboxylase activityGO:000465810.4PCCA, PCCB
3isomerase activityGO:00168539.8ACADM, MUT
4amino acid bindingGO:00165979.5ASS1, OTC
5acyl-CoA dehydrogenase activityGO:00039959.0ACAD8, ACADL, ACADM, ACADSB
6oxidoreductase activity, acting on the CH-CH group of donors, with a flavin as acceptorGO:00528909.0ACAD8, ACADL, ACADM, ACADSB
7oxidoreductase activity, acting on the CH-CH group of donorsGO:00166278.9ACAD8, ACADL, ACADM, ACADSB
8flavin adenine dinucleotide bindingGO:00506608.7ACAD8, ACADL, ACADM, ACADSB
9electron carrier activityGO:00090558.6ACAD8, ACADL, ACADM, ACADSB
10fatty-acyl-CoA bindingGO:00000628.5ACAD8, ACADL, ACADM, ACADSB, HMGCL

Sources for Propionicacidemia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet