MCID: ORG002
MIFTS: 38

Organic Acidemia malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Organic Acidemia

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Aliases & Descriptions for Organic Acidemia:

Name: Organic Acidemia 11 46 13
Organic Acid Metabolism Disorder 11 25
Organic Acidemias 23 66
 
Organic Aciduria 11 25
Disorder of Organic Acid Metabolism 66
Aciduria Organic 48

Classifications:



External Ids:

Disease Ontology11 DOID:0060159

Summaries for Organic Acidemia

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Disease Ontology:11 An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids.

MalaCards based summary: Organic Acidemia, also known as organic acid metabolism disorder, is related to propionicacidemia and maple syrup urine disease, type ii. An important gene associated with Organic Acidemia is MUT (Methylmalonyl-CoA Mutase), and among its related pathways are Defects in biotin (Btn) metabolism and Defective MUT causes methylmalonic aciduria mut type.

Wikipedia:69 Organic acidemia, also called organic aciduria, is a term used to classify a group of metabolic... more...

Related Diseases for Organic Acidemia

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

(show all 32)
idRelated DiseaseScoreTop Affiliating Genes
1propionicacidemia29.2ACADM, HMGCL, MUT, PCCA, PCCB
2maple syrup urine disease, type ii28.4ACADM, BCKDHA, BCKDHB, HMGCL
3juvenile hereditary hemochromatosis10.5MMAB, MUT
4atrioventricular block10.4PCCA, PCCB
5dysferlinopathy10.4MMACHC, MMADHC
6agammaglobulinemia 210.2MMAA, MMADHC, MUT
7tyrosinemia10.1MMACHC, MMADHC, MUT
8biotinidase deficiency10.1ACADM, PCCB
9isovaleric acidemia10.1
10methylmalonic acidemia10.0
11atrophic glossitis9.9ACADM, HMGCL
12polyneuropathy-intellectual disability-acromicria-premature menopause syndrome9.9BCKDHA, BCKDHB
13succinic acidemia9.9
14fatty acid oxidation disorders9.9
152-methylbutyrylglycinuria9.9
16glutathione synthetase deficiency9.9
173-@hydroxyisobutyric aciduria9.9
18lfng-related spondylocostal dysostosis, autosomal recessive9.9AUH, SERAC1
19cataract 38, autosomal recessive9.8SERAC1, TMEM70
20dyskeratosis congenita, autosomal recessive 19.8ACADM, HMGCL
21holocarboxylase synthetase deficiency9.7
22metabolic acidosis9.7
23neonatal diabetes mellitus9.7
24lactic acidosis9.7
25hypoglycemia9.7
26aminoacidopathies9.7
27hyperammonemia9.7
28fatal infantile encephalocardiomyopathy9.6ACADM, HMGCL
29ciliopathy9.6AUH, SERAC1, TMEM70
30autosomal recessive type iv ehlers-danlos syndrome9.4MMAA, MMAB, MMACHC, MMADHC, MUT, PCCA
31waardenburg's syndrome9.1ACADM, BCKDHB, MMAA, MMACHC, MUT, PCCA
32body dysmorphic disorder5.6ACADM, AUH, BCKDHA, BCKDHB, HMGCL, MMAA

Graphical network of the top 20 diseases related to Organic Acidemia:



Diseases related to organic acidemia

Symptoms for Organic Acidemia

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Drugs & Therapeutics for Organic Acidemia

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Drugs for Organic Acidemia (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
3Anaplerotic Therapy in Propionic AcidemiaCompletedNCT00645879Phase 1
4Comparison of Standard Versus Low Bicarbonate HemodialysisCompletedNCT01777178Phase 1
5Gas Kinetics and Metabolism in Anesthesia During Non Steady StateRecruitingNCT00225381Phase 1
6Comparison of High Versus Low Bicarbonate HemodialysisActive, not recruitingNCT02098356Phase 1

Search NIH Clinical Center for Organic Acidemia

Genetic Tests for Organic Acidemia

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Genetic tests related to Organic Acidemia:

id Genetic test Affiliating Genes
1 Disorder of Organic Acid Metabolism25
2 Organic Aciduria25
3 Organic Acidemias23

Anatomical Context for Organic Acidemia

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Animal Models for Organic Acidemia or affiliated genes

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Publications for Organic Acidemia

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Articles related to Organic Acidemia:

(show all 22)
idTitleAuthorsYear
1
Demographic and Clinical Findings in Pediatric Patients Affected by Organic Acidemia. (27247587)
2016
2
A Rare Cause of Sudden Onset- Severe Metabolic Acidosis in Paediatric Surgical Patients- Organic Acidemia. (27134976)
2016
3
A Study on the Humoral and Complement Immune System of Patients with Organic Acidemia. (26725562)
2015
4
Diagnostic challenges of aminoacidopathies and organic acidemias in a developing country: A twelve-year experience. (23994778)
2013
5
Clinical study of organic acidemias and fatty acid oxidation disorders detected in adults. (23524598)
2013
6
Neonatal Diabetes Mellitus Due to a Novel ABCC8 Gene Mutation Mimicking an Organic Acidemia. (23783767)
2013
7
Secondary hemophagocytosis in 3 patients with organic acidemia involving propionate metabolism. (21970506)
2012
8
ESI-MS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders. (17301002)
2007
9
Simplified screening for organic acidemia using GC/MS and dried urine filter paper: a study on neonatal mass screening. (10785335)
2000
10
Automated metabolic profiling and interpretation of GC/MS data for organic acidemia screening: a personal computer-based system. (10598689)
1999
11
Automated, simplified GC/MS data processing system for organic acidemia screening and its application. (11400763)
1999
12
A case study: organic acidemia. (7823796)
1994
13
Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy. (7726376)
1994
14
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism. (7726385)
1994
15
The Organic Acidemias: An Overview (20301313)
1993
16
Diagnosis of organic acidemia in developing countries. (1790621)
1991
17
Succinic acidemia is not a new syndrome of organic acidemia. (2387080)
1990
18
Succinic acidemia: a new syndrome of organic acidemia associated with congenital lactic acidosis and decreased NADH-cytochrome c reductase activity. (3383430)
1988
19
Quick screening and diagnosis of organic acidemia by NMR urinalysis. (3981318)
1985
20
Transient hyperammonemias in infants with and without organic acidemia. (7164908)
1982
21
Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia. (7365583)
1980
22
Short-chain organic acidemia and Reye's syndrome. (1167641)
1975

Variations for Organic Acidemia

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Expression for genes affiliated with Organic Acidemia

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Search GEO for disease gene expression data for Organic Acidemia.

Pathways for genes affiliated with Organic Acidemia

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Pathways related to Organic Acidemia according to GeneCards Suite gene sharing:

(show all 16)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
10.0PCCA, PCCB
2
Show member pathways
9.9MMAA, MUT
39.7MUT, PCCA, PCCB
4
Show member pathways
9.3BCKDHA, BCKDHB
5
Show member pathways
9.3BCKDHA, BCKDHB
6
Show member pathways
9.3ACADM, MUT, PCCA, PCCB
7
Show member pathways
9.0ACADM, MMAA, MUT, PCCA, PCCB
88.9MMAA, MMAB, MMACHC, MMADHC, MUT
9
Show member pathways
8.8BCKDHA, BCKDHB, MUT, PCCA
10
Show member pathways
8.8MMAA, MMACHC, MMADHC, MUT, PCCA, PCCB
11
Show member pathways
8.8MMAA, MMACHC, MMADHC, MUT, PCCA, PCCB
12
Show member pathways
8.4ACADM, HMGCL, MMAA, MUT, PCCA, PCCB
13
Show member pathways
8.4MMAA, MMAB, MMACHC, MMADHC, MUT, PCCA
148.1ACADM, BCKDHA, BCKDHB, MUT, PCCA, PCCB
15
Show member pathways
7.1ACADM, AUH, BCKDHA, BCKDHB, HMGCL, MUT
16
Show member pathways
5.8ACADM, AUH, BCKDHA, BCKDHB, HMGCL, MMAA

GO Terms for genes affiliated with Organic Acidemia

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Cellular components related to Organic Acidemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial alpha-ketoglutarate dehydrogenase complexGO:00059479.8BCKDHA, BCKDHB
2mitochondrial matrixGO:00057596.6ACADM, AUH, BCKDHA, BCKDHB, HMGCL, MMAA
3mitochondrionGO:00057395.0ACADM, AUH, BCKDHA, BCKDHB, HMGCL, MMAB

Biological processes related to Organic Acidemia according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1biotin metabolic processGO:000676810.5PCCA, PCCB
2cobalamin biosynthetic processGO:000923610.2MMAA, MMAB, MMACHC
3short-chain fatty acid catabolic processGO:001962610.0MMAA, MUT, PCCA, PCCB
4leucine catabolic processGO:000655210.0AUH, HMGCL
5fatty acid beta-oxidationGO:000663510.0ACADM, AUH
6response to starvationGO:00425949.6ACADM, HMGCL
7glyoxylate metabolic processGO:00464879.5BCKDHA, BCKDHB
8cobalamin metabolic processGO:00092359.5MMAA, MMAB, MMACHC, MMADHC, MUT
9branched-chain amino acid catabolic processGO:00090839.1AUH, BCKDHA, BCKDHB
10oxidation-reduction processGO:00551148.6ACADM, BCKDHA, BCKDHB, MMACHC

Molecular functions related to Organic Acidemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1propionyl-CoA carboxylase activityGO:000465810.3PCCA, PCCB
2cobalamin bindingGO:003141910.0MMACHC, MUT
3fatty-acyl-CoA bindingGO:00000629.8ACADM, HMGCL
4carboxy-lyase activityGO:00168319.4BCKDHA, BCKDHB
53-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activityGO:00038639.3BCKDHA, BCKDHB
6alpha-ketoacid dehydrogenase activityGO:00038269.2BCKDHA, BCKDHB

Sources for Organic Acidemia

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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