MCID: MTH008
MIFTS: 52

Methylmalonic Acidemia malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Metabolic diseases

Aliases & Classifications for Methylmalonic Acidemia

About this section
Sources:
10Disease Ontology, 68Wikipedia, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 65UMLS, 47Novoseek, 24GTR, 11diseasecard, 51Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
See all MalaCards sources

Aliases & Descriptions for Methylmalonic Acidemia:

Name: Methylmalonic Acidemia 10 68 45 22 23 12 65
Methylmalonic Aciduria 10 22 23 47 65
Methylmalonic Aciduria Cblb Type 10 45 65
Methylmalonic Aciduria Cbla Type 45 24 65
Mma 68 45 23
Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cblb Type 10 45
Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 10 24
Vitamin B12-Responsive Methylmalonic Aciduria, Type Cblb 45 51
Vitamin B12-Responsive Methylmalonic Acidemia Type Cblb 45 51
Vitamin B12-Responsive Methylmalonic Aciduria Type Cbla 45 51
Vitamin B12-Responsive Methylmalonic Acidemia Type Cbla 45 51
Methylmalonic Aciduria, Cblb Type 45 24
Methylmalonic Acidemia, Cblb Type 10 45
Methylmalonic Aciduria, Mut Type 10 11
Acidemia, Methylmalonic 45 24
 
Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cbla Complementation Type 45
Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cbla Type 10
Methylmalonicaciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin--Cbl a 10
Methylmalonicaciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin--Cbl B 10
Methylmalonicaciduria Due to Methylmalonic Coa Mutase Deficiency 10
Methylmalonic Aciduria, Cbla Type 45
Methylmalonic Acidemia, Cbla Type 10
Methylmalonic Aciduria Type Cblb 10
Methylmalonic Aciduria Type Cbla 10
Methylmalonic Acidemia Cbla Type 45
Methylmalonic Acidemia Cblb Type 45
Methylmalonic Aciduria Mut Type 10
Isolated Methylmalonic Acidemia 23
Methylmalonicaciduria 22
Mma Cbl a Type 45

Characteristics:

Orphanet epidemiological data:

51
vitamin b12-responsive methylmalonic aciduria type cbla:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood
vitamin b12-responsive methylmalonic aciduria, type cblb:
Inheritance: Autosomal recessive; Age of onset: Childhood

Classifications:



External Ids:

Disease Ontology10 DOID:14749
Orphanet51 79310, 79311
ICD10 via Orphanet28 E71.1
MESH via Orphanet37 C537360, C537361
UMLS65 C0268583, C1855119, C1855102 C1855109, more

Summaries for Methylmalonic Acidemia

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NIH Rare Diseases:45 Methylmalonic acidemia is an inherited condition in which the body is unable to process certain proteins and fats properly. signs and symptoms usually appear in early infancy and vary from mild to life-threatening. affected infants can experience vomiting, dehydration, weak muscle tone (hypotonia), developmental delay, lethargy, hepatomegaly, and failure to thrive. long-term complications can include feeding problems, intellectual disability, chronic kidney disease, and pancreatitis. without treatment, this condition can lead to coma and death in some cases. mutations in the mut, mmaa, mmab, mmadhc, and mcee genes cause methylmalonic acidemia. it is inherited in an autosomal recessive fashion. methylmalonic acidemia is treated with a low-protein, high-calorie diet, certain medications, antibiotics and, in some cases, organ transplantation. last updated: 5/5/2016

MalaCards based summary: Methylmalonic Acidemia, also known as methylmalonic aciduria, is related to methylmalonic aciduria and homocystinuria, cblc type and methylmalonic acidemia with homocystinuria. An important gene associated with Methylmalonic Acidemia is MUT (Methylmalonyl-CoA Mutase), and among its related pathways are Defective MMAA causes methylmalonic aciduria type cblA and Defective HLCS causes multiple carboxylase deficiency. Affiliated tissues include kidney, liver and pancreas, and related mouse phenotypes are liver/biliary system and mortality/aging.

Disease Ontology:10 An organic acidemia that involves an accumulation of methylmalonic acid in the blood.

Genetics Home Reference:23 Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly. The effects of methylmalonic acidemia, which usually appear in early infancy, vary from mild to life-threatening. Affected infants can experience vomiting, dehydration, weak muscle tone (hypotonia), developmental delay, excessive tiredness (lethargy), an enlarged liver (hepatomegaly), and failure to gain weight and grow at the expected rate (failure to thrive). Long-term complications can include feeding problems, intellectual disability, chronic kidney disease, and inflammation of the pancreas (pancreatitis). Without treatment, this disorder can lead to coma and death in some cases.

Wikipedia:68 Methylmalonic acidemia (MMA), also called methylmalonic aciduria, first characterized by Oberholzer et... more...

Related Diseases for Methylmalonic Acidemia

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Diseases in the Methylmalonic Acidemia family:

Mcee-Related Methylmalonic Acidemia Mmaa-Related Methylmalonic Acidemia
Mmab-Related Methylmalonic Acidemia Mmadhc-Related Methylmalonic Acidemia
Mut-Related Methylmalonic Acidemia

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

(show top 50)    (show all 212)
idRelated DiseaseScoreTop Affiliating Genes
1methylmalonic aciduria and homocystinuria, cblc type33.7MMACHC, MTR
2methylmalonic acidemia with homocystinuria12.7
3methylmalonic acidemia with homocystinuria, type cbld12.7
4isolated methylmalonic acidemia12.5
5methylmalonic acidemia with homocystinuria, type cblj12.5
6vitamin b12-responsive methylmalonic acidemia12.5
7methylmalonic acidemia due to methylmalonyl-coa epimerase deficiency12.5
8mcee-related methylmalonic acidemia12.4
9mmaa-related methylmalonic acidemia12.4
10mmab-related methylmalonic acidemia12.4
11mmadhc-related methylmalonic acidemia12.4
12mut-related methylmalonic acidemia12.4
13vitamin b12-unresponsive methylmalonic acidemia12.4
14methylmalonic acidemia with homocystinuria, type cblx12.4
15vitamin b12-unresponsive methylmalonic acidemia type mut012.4
16combined malonic and methylmalonic acidemia12.4
17vitamin b12-responsive methylmalonic acidemia, type cbldv212.4
18vitamin b12-unresponsive methylmalonic acidemia type mut-12.4
19methylmalonic aciduria and homocystinuria, cblf type12.0
20mental retardation, x-linked 311.8
21monoclonal mast cell activation syndrome11.7
22methylmalonic aciduria due to transcobalamin receptor defect11.7
23methylmalonic aciduria and homocystinuria, cbld type11.6
24methylmalonic aciduria, mut(0) type11.4
25methylmalonic aciduria, vitamin b12-responsive11.4
26methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type11.4
27monomelic amyotrophy10.8
28hepatitis10.5
29schizophrenia10.5
30lymphoma10.5
31prostatitis10.5
32joubert syndrome and related disorders10.5MMAB, MUT
33vitiligo mental retardation facial dysmorphism uremia10.4MMAA, MTR
34prostate cancer10.4
35obesity10.4
36leukemia10.4
37endotheliitis10.4
38chromosome 4q32.1-q32.2 triplication syndrome10.3ACADM, HMGCL
39systemic lupus erythematosus10.3
40coronary artery disease10.3
41renal cell carcinoma10.3
42insulin-like growth factor i10.3
43gastric cancer10.3
44polycystic ovary syndrome10.3
45skin disease10.3
46artery disease10.3
47cholelithiasis10.3
48spotted fever10.3
49gastroenteritis10.3
50hepatoblastoma10.3

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



Diseases related to methylmalonic acidemia

Symptoms for Methylmalonic Acidemia

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Drugs & Therapeutics for Methylmalonic Acidemia

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

(show all 15)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
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
2
HydroxocobalaminapprovedPhase 3, Phase 222713422-51-011953898, 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 3, Phase 222768-19-944176380
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
4
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
5Vitamin B ComplexPhase 32847
6VitaminsPhase 33857
7Vitamin B 12Phase 3, Phase 2227
8carnitineNutraceuticalPhase 3146
9
MethylcobalaminNutraceuticalPhase 3, Phase 222613422-55-4
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
11
CobalaminNutraceuticalPhase 3, Phase 222713408-78-16438156
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
12Vitamin B12NutraceuticalPhase 3, Phase 2227
13
Ornithineapproved, nutraceuticalPhase 26370-26-86262
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
14AntioxidantsPhase 22442
15Glutamic AcidNutraceuticalPhase 2201

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
4EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological ImpairmentActive, not recruitingNCT01793090Phase 2
5Ataluren for Nonsense Mutation Methylmalonic AcidemiaSuspendedNCT01141075Phase 2
6Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic AcidemiaTerminatedNCT01597440Phase 2
7Increasing Ureagenesis in Inborn Errors of Metabolism With N-CarbamylglutamateWithdrawnNCT01341379Phase 2
8Clinical and Laboratory Study of Methylmalonic AcidemiaRecruitingNCT00078078
9Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome StudyRecruitingNCT01289158
10Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry ProtocolEnrolling by invitationNCT02322177

Search NIH Clinical Center for Methylmalonic Acidemia

Genetic Tests for Methylmalonic Acidemia

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Genetic tests related to Methylmalonic Acidemia:

id Genetic test Affiliating Genes
1 Methylmalonic Acidemia22

Anatomical Context for Methylmalonic Acidemia

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MalaCards organs/tissues related to Methylmalonic Acidemia:

33
Kidney, Liver, Pancreas, Bone, T cells, Heart, Breast

Animal Models for Methylmalonic Acidemia or affiliated genes

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MGI Mouse Phenotypes related to Methylmalonic Acidemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.4ACADM, GPD2, HMGCL, MUT, OTC, PCCA
2MP:00107685.9ACADM, GPD2, HMGCL, LMBRD1, MTHFR, MTR

Publications for Methylmalonic Acidemia

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Articles related to Methylmalonic Acidemia:

(show top 50)    (show all 217)
idTitleAuthorsYear
1
Crusted scabies in a patient with lepromatous leprosy. (27183357)
2016
2
SirT1 knockdown potentiates radiation-induced bystander effect through promoting c-Myc activity and thus facilitating ROS accumulation. (25772107)
2015
3
Conduct disorder and callous-unemotional traits in youth. (25693028)
2015
4
Subdural empyma due to Mycobacterium fortuitum in a non-HIV patient. (25297036)
2014
5
Jugular thrombophlebitis in horses: a review of fibrinolysis, thrombus formation, and clinical management. (23814304)
2013
6
Adjuvant treatment for resected pancreatic adenocarcinoma-still an unresolved issue. (24275131)
2013
7
Hepatocyte expression of the senescence marker p21 is linked to fibrosis and an adverse liver-related outcome in alcohol-related liver disease. (24086266)
2013
8
The association between hypertensive disorders in pregnancy and bronchopulmonary dysplasia: a systematic review. (24235063)
2013
9
Class 3 inhibition of hERG K+ channel by caffeic acid phenethyl ester (CAPE) and curcumin. (23440458)
2013
10
Association of cytokine gene polymorphisms in Tuberculosis patients and their House hold contacts. (24313289)
2013
11
Analysis of detailed phenotype profiles reveals CHRNA5-CHRNA3-CHRNB4 gene cluster association with several nicotine dependence traits. (22241830)
2012
12
The association between early life and adult body mass index and physical activity with risk of non-Hodgkin lymphoma: impact of gender. (23146413)
2012
13
Patterns of noncryoglobulinemic glomerulonephritis with monoclonal Ig deposits: correlation with IgG subclass and response to rituximab. (21700823)
2011
14
MD-2-mediated ionic interactions between lipid A and TLR4 are essential for receptor activation. (20018893)
2010
15
Adenocarcinoma of small intestinal type in retroperitoneal mature teratoma. (20846270)
2010
16
Ileo-ileal intussusception due to inverted Meckel's diverticulum. (19803269)
2009
17
Endoplasmic reticulum stress in the intestinal epithelium and inflammatory bowel disease. (19237300)
2009
18
Amphipathic motifs in BAR domains are essential for membrane curvature sensing. (19816406)
2009
19
Regulation of the colonic vitamin D system for prevention of tumor progression: an update. (19450178)
2009
20
Missed opportunities to diagnose Plasmodium falciparum malaria: results of a regional service evaluation. (19121545)
2009
21
Tracheal agenesis without esophageal fistula: genetic, resuscitative, and pathological issues. (18206442)
2008
22
HGF inhibits BMP-induced osteoblastogenesis: possible implications for the bone disease of multiple myeloma. (17138824)
2007
23
Effects of metformin treatment in women with polycystic ovary syndrome depends on insulin resistance. (17505944)
2007
24
Diversity of LEF/TCF action in development and disease. (17143293)
2006
25
Which cyclin E prevails as prognostic marker for breast cancer? Results from a retrospective study involving 635 lymph node-negative breast cancer patients. (16740753)
2006
26
Paroxysmal focal dystonia with sensory symptoms secondary to cortical oligoastrocytoma. (16598615)
2006
27
Asymptomatic bacteriuria among the institutionalized elderly. (16835983)
2006
28
Decreased glucose-6-phosphate-dehydrogenase (G6PD) activity and risk of senile cataract in Taiwan. (16581614)
2006
29
Complex p63 mRNA isoform expression patterns in squamous cell carcinoma of the head and neck. (15201986)
2004
30
Epithelial tumors of the middle ear--are middle ear carcinoids really distinct from middle ear adenomas? (12953765)
2003
31
Esophageal and bronchial perforations after thoracic aortic aneurysm replacement: successful repair with covered metallic stents. (14753315)
2003
32
Tumor-infiltrating CD4+ T lymphocytes express APO2 ligand (APO2L)/TRAIL upon specific stimulation with autologous lung carcinoma cells: role of IFN-alpha on APO2L/TRAIL expression and -mediated cytotoxicity. (12097384)
2002
33
SMAD4/DPC4 and pancreatic cancer survival. Commentary re: M. Tascilar et al., The SMAD4 protein and prognosis of pancreatic ductal adenocarcinoma. Clin. Cancer Res., 7: 4115-4121, 2001. (11751474)
2001
34
Posttransplant diabetes mellitus in pediatric thoracic organ recipients receiving tacrolimus-based immunosuppression. (11213069)
2001
35
High dose of idarubicin-based regimen for diffuse large cell AIDS-related non-Hodgkin's lymphoma patients: a pilot study. (11602411)
2001
36
Expression of stromelysin and urokinase type plasminogen activator protein in resection specimens and biopsies at different stages of osteoarthritis of the knee. (10782465)
2000
37
Decreased pulmonary radiation resistance of manganese superoxide dismutase (MnSOD)-deficient mice is corrected by human manganese superoxide dismutase-Plasmid/Liposome (SOD2-PL) intratracheal gene therapy. (11023599)
2000
38
Microalbuminuria and hypertension in nondiabetic Japanese men. (10075379)
1999
39
Transcriptional induction of the urokinase receptor gene by a constitutively active Src. Requirement of an upstream motif (-152/-135) bound with Sp1. (10373450)
1999
40
A potential mechanism of local anti-inflammatory action of alpha-melanocyte-stimulating hormone within the brain: modulation of tumor necrosis factor-alpha production by human astrocytic cells. (9326743)
1997
41
Effects of iron, zinc, calcium, and vitamins on the activity and contents of human placental copper/zinc and manganese superoxide dismutases. (8909696)
1996
42
Cultured human keratinocytes as a peripheral source of mRNA for tyrosine hydroxylase and aromatic L-amino acid decarboxylase. (8739975)
1996
43
The intermediate syndrome in organophosphate poisoning: an overview of experimental and clinical observations. (8523492)
1995
44
Vitamin D status and sex hormone binding globulin: determinants of bone turnover and bone mineral density in elderly women. (8585420)
1995
45
Immunolocalization of proacrosin/acrosin in rabbit sperm during acrosome reaction and in spermatozoa recovered from the perivitelline space. (8179905)
1994
46
Hydroxylation of phenol to hydroquinone catalyzed by a human myeloperoxidase-superoxide complex: possible implications in benzene-induced myelotoxicity. (1666626)
1991
47
The changes of histopathology and serum anti-sparganum IgG in experimental sparganosis of mice. (2486838)
1989
48
Human metallothionein genes: molecular cloning and sequence analysis of the mRNA. (6896577)
1982
49
Intracranial hypertension and papilledema associated with nalidixic acid therapy. (4583929)
1973
50
EFFECT OF CHRONICALLY INCREASED VENTRICULAR PRESSURE ON ELECTRICAL FORCES OF THE HEART. A CORRELATION BETWEEN HEMODYNAMIC AND VECTROCARDIOGRAPHIC DATA (FRANK SYSTEM) IN 90 PATIENTS WITH AORTIC OR PULMONIC STENOSIS. (14211813)
1964

Variations for Methylmalonic Acidemia

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Clinvar genetic disease variations for Methylmalonic Acidemia:

5 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1MUTNM_000255.3(MUT): c.1207C> T (p.Arg403Ter)single nucleotide variantPathogenicrs727504020GRCh37Chr 6, 49419304: 49419304
2MUTNM_000255.3(MUT): c.280G> A (p.Gly94Arg)single nucleotide variantPathogenicrs727504022GRCh37Chr 6, 49426900: 49426900
3MUTNM_000255.3(MUT): c.52C> T (p.Gln18Ter)single nucleotide variantPathogenicrs121918248GRCh37Chr 6, 49427128: 49427128
4MUTNM_000255.3(MUT): c.313T> C (p.Trp105Arg)single nucleotide variantPathogenicrs121918249GRCh37Chr 6, 49426867: 49426867
5MUTNM_000255.3(MUT): c.278G> A (p.Arg93His)single nucleotide variantPathogenicrs121918251GRCh37Chr 6, 49426902: 49426902
6MUTNM_000255.3(MUT): c.2150G> T (p.Gly717Val)single nucleotide variantPathogenicrs121918252GRCh37Chr 6, 49399544: 49399544
7MUTNM_000255.3(MUT): c.1867G> A (p.Gly623Arg)single nucleotide variantPathogenicrs121918254GRCh37Chr 6, 49408008: 49408008
8MUTNM_000255.3(MUT): c.655A> T (p.Asn219Tyr)single nucleotide variantPathogenicrs121918256GRCh37Chr 6, 49425502: 49425502
9MUTNM_000255.3(MUT): c.322C> T (p.Arg108Cys)single nucleotide variantPathogenicrs121918257GRCh37Chr 6, 49426858: 49426858
10MUTNM_000255.3(MUT): c.643G> A (p.Gly215Ser)single nucleotide variantPathogenicrs121918258GRCh37Chr 6, 49425514: 49425514
11MUTNM_000255.3(MUT): c.1106G> A (p.Arg369His)single nucleotide variantPathogenicrs564069299GRCh37Chr 6, 49419405: 49419405
12MUTNM_000255.3(MUT): c.1663G> A (p.Ala555Thr)single nucleotide variantLikely pathogenic, Pathogenicrs753564352GRCh37Chr 6, 49412365: 49412365
13MUTNM_000255.3(MUT): c.572C> A (p.Ala191Glu)single nucleotide variantPathogenicrs760782399GRCh37Chr 6, 49425585: 49425585
14MUTNM_000255.3(MUT): c.890C> T (p.Thr297Ile)single nucleotide variantPathogenicrs547709692GRCh38Chr 6, 49456101: 49456101
15MUTNM_000255.3(MUT): c.322C> T (p.Arg108Cys)single nucleotide variantPathogenicrs121918257GRCh37Chr 6, 49426858: 49426858
16MUTNM_000255.3(MUT): c.1445-2A> Gsingle nucleotide variantPathogenicrs398123276GRCh37Chr 6, 49415500: 49415500
17MUTNM_000255.3(MUT): c.1852_1854delCTT (p.Leu618del)deletionPathogenicrs398123277GRCh37Chr 6, 49408021: 49408023
18MUTNM_000255.3(MUT): c.91C> T (p.Arg31Ter)single nucleotide variantPathogenicrs398123278GRCh37Chr 6, 49427089: 49427089

Expression for genes affiliated with Methylmalonic Acidemia

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Search GEO for disease gene expression data for Methylmalonic Acidemia.

Pathways for genes affiliated with Methylmalonic Acidemia

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

(show all 18)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
10.1MMAA, MUT
2
Show member pathways
9.7PC, PCCA
3
Show member pathways
9.7MCEE, MUT, PCCA
49.7MCEE, MUT, PCCA
5
Show member pathways
9.6MTHFR, MTR, TCN2
6
Show member pathways
9.3SUCLA2, SUCLG1
7
Show member pathways
9.2ACADM, MCEE, MMAA, MUT, PCCA
89.1LMBRD1, MMACHC, TCN2
9
Show member pathways
9.1ACADM, HMGCL, MCEE, MUT, PCCA
10
Show member pathways
8.9PC, SUCLA2, SUCLG1
11
Show member pathways
8.3ACADM, GPD2, HMGCL, MCEE, MMAA, MUT
12
Show member pathways
8.3MMAA, MMACHC, MMADHC, MTR, MUT, PC
13
Show member pathways
8.3MMAA, MMACHC, MMADHC, MTR, MUT, PC
148.2ACADM, MCEE, MUT, PCCA, SUCLA2, SUCLG1
158.0LMBRD1, MMAA, MMAB, MMACHC, MMADHC, MTR
16
Show member pathways
6.9LMBRD1, MMAA, MMAB, MMACHC, MMADHC, MTHFR
17
Show member pathways
6.7ACADM, MCEE, MTHFR, MTR, MUT, OTC
18
Show member pathways
3.9ACADM, GPD2, HMGCL, LMBRD1, MCEE, MMAA

GO Terms for genes affiliated with Methylmalonic Acidemia

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1cobalamin biosynthetic processGO:000923610.7MMAA, MMACHC
2fatty acid beta-oxidationGO:000663510.6ACADM, MMAA
3homocysteine metabolic processGO:005066710.5MTHFR, MUT
4response to starvationGO:004259410.2ACADM, HMGCL
5succinyl-CoA metabolic processGO:00061049.8SUCLA2, SUCLG1
6cellular amino acid metabolic processGO:00065209.6MTHFR, OTC
7cobalamin metabolic processGO:00092359.5LMBRD1, MMACHC, MMADHC, MTR
8liver developmentGO:00018899.3ACADM, HMGCL, OTC
9small molecule metabolic processGO:00442818.9GPD2, MMAA, MTHFR, MTR, PC
10water-soluble vitamin metabolic processGO:00067678.7LMBRD1, MMAA, MMAB, MUT, PCCA, TCN2
11cellular lipid metabolic processGO:00442558.5ACADM, GPD2, MCEE, MUT, PCCA
12vitamin metabolic processGO:00067668.4LMBRD1, MTHFR, MTR, PC, PCCA

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

idNameGO IDScoreTop Affiliating Genes
1biotin bindingGO:00093749.4PC, PCCA
2succinate-CoA ligase (ADP-forming) activityGO:00047759.3SUCLA2, SUCLG1

Sources for Methylmalonic Acidemia

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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