MCID: ORG002
MIFTS: 43

Organic Acidemia malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Organic Acidemia

About this section

Aliases & Descriptions for Organic Acidemia:

Name: Organic Acidemia 10 45 12
Organic Acid Metabolism Disorder 10 24
Disorder of Organic Acid Metabolism 65
 
Organic Acidemias 22
Aciduria Organic 47
Organic Aciduria 10

Classifications:



External Ids:

Disease Ontology10 DOID:0060159
UMLS65 C1263739

Summaries for Organic Acidemia

About this section
Disease Ontology:10 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 maple syrup urine disease, type ii and propionicacidemia. An important gene associated with Organic Acidemia is HMGCL (3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase), and among its related pathways are Mitochondrial LC-Fatty Acid Beta-Oxidation and Biotin metabolism. Affiliated tissues include monocytes, b cells and myeloid, and related mouse phenotype liver/biliary system.

Wikipedia:68 Organic acidemia, also called organic aciduria, is a term used to classify a group of metabolic... more...

Related Diseases for Organic Acidemia

About this section

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

(show all 38)
idRelated DiseaseScoreTop Affiliating Genes
1maple syrup urine disease, type ii29.2ACADM, ACADS, BCKDHB, BTD, HMGCL
2propionicacidemia28.7ACADM, HLCS, HMGCL, MUT, PCCA, PCCB
3deafness, autosomal dominant 2510.5ACADM, ACADS
4chromosome 4q32.1-q32.2 triplication syndrome10.4ACADM, ACADS, HMGCL
5myopathy, myofibrillar, 210.4ACADS, HMGCL
6fbxl4-related mitochondrial dna depletion syndrome, encephalomyopathic form10.3ACADM, ACADS
7dyskeratosis congenita, autosomal recessive 110.3ACADM, ACADS, HMGCL
8aceruloplasminemia10.3ACADM, ACADS, HMGCL
9usher syndrome, type 1g10.3ACADM, BTD
10acyl-coa dehydrogenase, medium chain, deficiency of10.3ACADM, ACADS, BTD
11external pathological resorption10.2ACADM, HMGCL
12paramyloidosis10.1BTD, HLCS, HMGCL
13isovaleric acidemia10.1
14duarte variant galactosemia10.0MMACHC, MMADHC
15methylmalonic acidemia10.0
16long qt syndrome 610.0ACADM, BTD, HLCS, HMGCL
17lacrimal gland adenocarcinoma9.9BTD, HLCS
18biotinidase deficiency9.9ACADM, BTD, HLCS, PCCB
19joubert syndrome and related disorders9.9MMAB, MUT
20succinic acidemia9.9
21fatty acid oxidation disorders9.9
22lichen nitidus9.9ACADM, BTD, HLCS, PCCB
23glutathione synthetase deficiency9.9
242-methylbutyryl-coa dehydrogenase deficiency9.9
253-hydroxyisobutyric aciduria9.9
26leukemia, chronic myeloid, somatic9.8MMAA, MMADHC, MUT
27holocarboxylase synthetase deficiency9.8
28metabolic acidosis9.8
29neonatal diabetes mellitus9.8
30lactic acidosis9.8
31hypoglycemia9.8
32aminoacidopathies9.8
33hyperammonemia9.8
34mevalonic aciduria9.7
35congenital adrenal hyperplasia9.6BTD, HLCS, PCCA, PCCB
36mast-cell leukemia8.9ACADM, BCKDHB, MMAA, MMACHC, MUT, PCCB
37lymphangioma7.6ACADM, HMGCL, MMAA, MMAB, MMACHC, MMADHC
38survival motor neuron spinal muscular atrophy5.9ACADM, ACADS, BCKDHB, BTD, HLCS, HMGCL

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



Diseases related to organic acidemia

Symptoms for Organic Acidemia

About this section

Drugs & Therapeutics for Organic Acidemia

About this section

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

(show all 23)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
HydroxocobalaminapprovedPhase 322713422-51-011953898, 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
2
MetronidazoleapprovedPhase 3418443-48-14173
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
3
Biotinapproved, nutraceuticalPhase 33658-85-5171548
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
4
Cyanocobalaminapproved, nutraceuticalPhase 322768-19-944176380
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
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
5Vitamin B 12Phase 3227
6Vitamin B ComplexPhase 32847
7VitaminsPhase 33857
8carnitineNutraceuticalPhase 3146
9
MethylcobalaminNutraceuticalPhase 322613422-55-4
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
10Vitamin B7NutraceuticalPhase 336
11Vitamin B12NutraceuticalPhase 3227
12
CobalaminNutraceuticalPhase 322713408-78-16438156
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
13
Ornithineapproved, nutraceuticalPhase 2, Phase 16370-26-86262
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
14Chelating AgentsPhase 1667
15Calcium, DietaryPhase 14678
16AnticoagulantsPhase 11760
17AnestheticsPhase 17385
18Central Nervous System DepressantsPhase 110016
19Dialysis SolutionsPhase 1149
20Glutamic AcidNutraceuticalPhase 1201
21CitrateNutraceuticalPhase 11001
22
Citric AcidnutraceuticalPhase 1100177-92-9311
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
23glutamineNutraceuticalPhase 1144

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 Organic Acidemia

Genetic Tests for Organic Acidemia

About this section

Genetic tests related to Organic Acidemia:

id Genetic test Affiliating Genes
1 Organic Acidemias22

Anatomical Context for Organic Acidemia

About this section

MalaCards organs/tissues related to Organic Acidemia:

33
Monocytes, B cells, Myeloid, Testes, Thyroid, Breast, Colon

Animal Models for Organic Acidemia or affiliated genes

About this section

MGI Mouse Phenotypes related to Organic Acidemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.7ACADM, ACADS, HMGCL, MUT, PCCA

Publications for Organic Acidemia

About this section

Articles related to Organic Acidemia:

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

Variations for Organic Acidemia

About this section

Expression for genes affiliated with Organic Acidemia

About this section
Search GEO for disease gene expression data for Organic Acidemia.

Pathways for genes affiliated with Organic Acidemia

About this section

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

(show all 17)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.9ACADM, ACADS
29.9BTD, HLCS
39.7BTD, MMACHC
4
Show member pathways
9.7MMAA, MUT
5
Show member pathways
9.5PCCA, PCCB
69.1MUT, PCCA, PCCB
7
Show member pathways
9.0BCKDHB, MUT, PCCA
8
Show member pathways
8.6ACADM, ACADS, MUT, PCCA, PCCB
98.3ACADM, BCKDHB, MUT, PCCA, PCCB
10
Show member pathways
8.1ACADM, ACADS, MMAA, MUT, PCCA, PCCB
117.9MMAA, MMAB, MMACHC, MMADHC, MUT
12
Show member pathways
7.9ACADM, ACADS, HMGCL, MMAA, MUT, PCCA
13
Show member pathways
7.8ACADM, ACADS, BCKDHB, HMGCL, MUT, PCCA
14
Show member pathways
7.7MMAA, MMACHC, MMADHC, MUT, PCCA, PCCB
15
Show member pathways
7.7MMAA, MMACHC, MMADHC, MUT, PCCA, PCCB
16
Show member pathways
6.3BTD, HLCS, MMAA, MMAB, MMACHC, MMADHC
17
Show member pathways
5.0ACADM, ACADS, BCKDHB, BTD, HLCS, HMGCL

GO Terms for genes affiliated with Organic Acidemia

About this section

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00057599.5BTD, PCCA

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1fatty acid beta-oxidationGO:000663510.3ACADM, MMAA
2cobalamin biosynthetic processGO:000923610.2MMAA, MMACHC
3response to starvationGO:004259410.2ACADM, HMGCL
4cobalamin metabolic processGO:000923510.1MMACHC, MMADHC
5post-embryonic developmentGO:00097919.6ACADM, MUT
6biotin metabolic processGO:00067689.5BTD, PCCA, PCCB
7vitamin metabolic processGO:00067669.5PCCA, PCCB
8cellular lipid metabolic processGO:00442558.9ACADM, MUT, PCCA, PCCB
9water-soluble vitamin metabolic processGO:00067677.7HLCS, MMAA, MMAB, MUT, PCCA, PCCB

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

idNameGO IDScoreTop Affiliating Genes
1oxidoreductase activity, acting on the CH-CH group of donorsGO:00166279.6ACADM, ACADS
2biotin bindingGO:00093749.6HLCS, PCCA

Sources for Organic Acidemia

About this section
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