MCID: THR026
MIFTS: 15

the Organic Acidemias: an malady

Aliases & Classifications for the Organic Acidemias: an

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Aliases & Descriptions for the Organic Acidemias: an:

Name: the Organic Acidemias: an 21


Summaries for the Organic Acidemias: an

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MalaCards based summary: the Organic Acidemias: an is related to vitiligo mental retardation facial dysmorphism uremia and alpha-methylacetoacetic aciduria. An important gene associated with the Organic Acidemias: an is MMACHC (Methylmalonic Aciduria (Cobalamin Deficiency) CblC Type, With Homocystinuria), and among its related pathways are Defective MMAA causes methylmalonic aciduria type cblA and Cobalamin (Cbl, vitamin B12) transport and metabolism.

GeneReviews summary for oa-overview

Related Diseases for the Organic Acidemias: an

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Graphical network of diseases related to the Organic Acidemias: an:



Diseases related to the organic acidemias: an

Symptoms for the Organic Acidemias: an

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Drugs & Therapeutics for the Organic Acidemias: an

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Drugs for the Organic Acidemias: an (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
10
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
11carnitineNutraceuticalPhase 3138
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
13glutamineNutraceuticalPhase 1137
14Glutamic AcidNutraceuticalPhase 1187
15CitrateNutraceuticalPhase 1784
16
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

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
3Anaplerotic Therapy in Propionic AcidemiaCompletedNCT00645879Phase 1
4Comparison of Standard Versus Low Bicarbonate HemodialysisCompletedNCT01777178Phase 1
5Comparison of High Versus Low Bicarbonate HemodialysisRecruitingNCT02098356Phase 1
6Gas Kinetics and Metabolism in Anesthesia During Non Steady StateRecruitingNCT00225381Phase 1

Search NIH Clinical Center for the Organic Acidemias: an

Genetic Tests for the Organic Acidemias: an

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Anatomical Context for the Organic Acidemias: an

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Animal Models for the Organic Acidemias: an or affiliated genes

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Publications for the Organic Acidemias: an

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Variations for the Organic Acidemias: an

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Expression for genes affiliated with the Organic Acidemias: an

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Search GEO for disease gene expression data for the Organic Acidemias: an.

Pathways for genes affiliated with the Organic Acidemias: an

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Pathways related to the Organic Acidemias: an according to GeneCards Suite gene sharing:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9MMAA, MUT
29.4MMAA, MMAB, MMACHC, MUT
39.1ACAT1, MUT, PCCA, PCCB
49.1ACAT1, MUT, PCCA, PCCB
5
Show member pathways
9.1MCCC1, MCCC2, PCCA, PCCB
6
Show member pathways
9.1MMAA, MUT, PCCA, PCCB
7
Show member pathways
8.8BCKDHA, BCKDHB, DBT
8
Show member pathways
8.4ACAT1, HMGCL, MMAA, MUT, PCCA, PCCB
9
Show member pathways
8.3BCKDHA, BCKDHB, DBT, MUT, PCCA
10
Show member pathways
8.2MCCC1, MCCC2, MMAA, MMACHC, MUT, PCCA
11
Show member pathways
8.2MCCC1, MCCC2, MMAA, MMACHC, MUT, PCCA
12
Show member pathways
8.0MCCC1, MCCC2, MMAA, MMAB, MMACHC, MUT
13
Show member pathways
6.9ACAT1, BCKDHA, BCKDHB, DBT, GCDH, MUT
14
Show member pathways
5.8ACAT1, BCKDHA, BCKDHB, DBT, HMGCL, IVD
15
Show member pathways
4.5ACAT1, BCKDHA, BCKDHB, DBT, GCDH, HMGCL

GO Terms for genes affiliated with the Organic Acidemias: an

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Cellular components related to the Organic Acidemias: an according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial alpha-ketoglutarate dehydrogenase complexGO:00059479.4BCKDHA, BCKDHB, DBT
2mitochondrial inner membraneGO:00057439.0ACAT1, GCDH, HMGCL, MCCC1
3mitochondrial matrixGO:00057594.7ACAT1, BCKDHA, BCKDHB, DBT, GCDH, HMGCL
4mitochondrionGO:00057394.5ACAT1, BCKDHA, BCKDHB, DBT, GCDH, HMGCL

Biological processes related to the Organic Acidemias: an according to GeneCards Suite gene sharing:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1cobalamin biosynthetic processGO:000923610.5MMAA, MMAB, MMACHC
2cellular ketone body metabolic processGO:004695010.4ACAT1, HMGCL
3ketone body biosynthetic processGO:004695110.4ACAT1, HMGCL
4response to starvationGO:004259410.3ACAT1, HMGCL
5acyl-CoA metabolic processGO:000663710.2GCDH, HMGCL
6fatty acid beta-oxidation using acyl-CoA dehydrogenaseGO:003353910.0GCDH, IVD
7lipid homeostasisGO:00550889.9GCDH, IVD
8cobalamin metabolic processGO:00092359.9MMAA, MMAB, MMACHC, MUT
9biotin metabolic processGO:00067689.8MCCC1, MCCC2, PCCA, PCCB
10short-chain fatty acid catabolic processGO:00196269.7MMAA, MUT, PCCA, PCCB
11fatty acid beta-oxidationGO:00066359.6MMAA, MUT, PCCA, PCCB
12leucine catabolic processGO:00065529.5HMGCL, IVD, MCCC1, MCCC2
13cellular lipid metabolic processGO:00442558.8ACAT1, HMGCL, MMAA, MUT, PCCA, PCCB
14vitamin metabolic processGO:00067668.3MCCC1, MCCC2, MMAA, MMAB, MMACHC, MUT
15water-soluble vitamin metabolic processGO:00067678.3MCCC1, MCCC2, MMAA, MMAB, MMACHC, MUT
16branched-chain amino acid catabolic processGO:00090837.9ACAT1, BCKDHA, BCKDHB, DBT, IVD, MCCC1
17cellular nitrogen compound metabolic processGO:00346416.8ACAT1, BCKDHA, BCKDHB, DBT, GCDH, IVD
18metabolic processGO:00081525.7ACAT1, BCKDHA, BCKDHB, DBT, GCDH, IVD
19small molecule metabolic processGO:00442814.5ACAT1, BCKDHA, BCKDHB, DBT, GCDH, HMGCL

Molecular functions related to the Organic Acidemias: an according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1biotin carboxylase activityGO:000407510.5MCCC1, PCCA
2biotin bindingGO:000937410.5MCCC1, PCCA
3methylcrotonoyl-CoA carboxylase activityGO:000448510.5MCCC1, MCCC2
4cobalamin bindingGO:003141910.3MMACHC, MUT
5propionyl-CoA carboxylase activityGO:000465810.2PCCA, PCCB
6acyl-CoA dehydrogenase activityGO:00039959.9GCDH, IVD
7oxidoreductase activity, acting on the CH-CH group of donors, with a flavin as acceptorGO:00528909.9GCDH, IVD
8oxidoreductase activity, acting on the CH-CH group of donorsGO:00166279.8GCDH, IVD
9alpha-ketoacid dehydrogenase activityGO:00038269.6BCKDHA, BCKDHB
103-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activityGO:00038639.5BCKDHA, BCKDHB
11carboxy-lyase activityGO:00168319.2BCKDHA, BCKDHB
12fatty-acyl-CoA bindingGO:00000629.0GCDH, HMGCL, IVD
13catalytic activityGO:00038248.1ACAT1, BCKDHB, HMGCL, MCCC1, MUT, PCCA

Sources for the Organic Acidemias: an

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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