MCID: MTH008
MIFTS: 51

Methylmalonic Acidemia malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Methylmalonic Acidemia

About this section

Aliases & Descriptions for Methylmalonic Acidemia:

Name: Methylmalonic Acidemia 11 69 46 23 24 13 66
Methylmalonic Aciduria 11 23 24 25 48 66
Methylmalonic Aciduria, Mut Type 11 12
Methylmalonic Aciduria Cblb Type 11 66
Acidemia, Methylmalonic 46 25
Mma 46 24
Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cbla Type 11
Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cblb Type 11
Methylmalonicaciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin--Cbl a 11
Methylmalonicaciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin--Cbl B 11
 
Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 11
Methylmalonicaciduria Due to Methylmalonic Coa Mutase Deficiency 11
Methylmalonic Acidemia, Cblb Type 11
Methylmalonic Acidemia, Cbla Type 11
Methylmalonic Aciduria Type Cblb 11
Methylmalonic Aciduria Type Cbla 11
Methylmalonic Aciduria Mut Type 11
Isolated Methylmalonic Acidemia 24
Methylmalonicaciduria 23

Classifications:



External Ids:

Disease Ontology11 DOID:14749

Summaries for Methylmalonic Acidemia

About this section
NIH Rare Diseases:46 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, and has symptoms including hepatomegaly, lethargy and vomiting. An important gene associated with Methylmalonic Acidemia is MUT (Methylmalonyl-CoA Mutase), and among its related pathways are Defective MUT causes methylmalonic aciduria mut type and Vitamin digestion and absorption. Affiliated tissues include kidney, liver and pancreas.

Disease Ontology:11 An organic acidemia that involves an accumulation of methylmalonic acid in the blood.

Genetics Home Reference:24 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:69 Methylmalonic acidemia (MMA), also called methylmalonic aciduria,[help 1] is an autosomal... more...

Related Diseases for Methylmalonic Acidemia

About this section

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 66)
idRelated DiseaseScoreTop Affiliating Genes
1methylmalonic aciduria and homocystinuria, cblc type32.8MMACHC, MTR
2methylmalonic acidemia with homocystinuria12.5
3methylmalonic acidemia with homocystinuria, type cbld12.3
4isolated methylmalonic acidemia12.3
5vitamin b12-responsive methylmalonic acidemia12.2
6methylmalonic acidemia with homocystinuria, type cblj12.0
7mcee-related methylmalonic acidemia12.0
8mmaa-related methylmalonic acidemia12.0
9mmab-related methylmalonic acidemia12.0
10mmadhc-related methylmalonic acidemia12.0
11mut-related methylmalonic acidemia12.0
12methylmalonic aciduria and homocystinuria, cblf type11.6
13mental retardation, x-linked 311.6
14methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type11.4
15methylmalonic aciduria and homocystinuria, cbld type11.4
16methylmalonic aciduria, vitamin b12-responsive11.4
17methylmalonic aciduria, mut(0) type11.3
18methylmalonic aciduria due to transcobalamin receptor defect11.3
19methylmalonyl-coa epimerase deficiency11.2
20methylmalonic aciduria and homocystinuria, cblj type11.1
21combined malonic and methylmalonic aciduria11.1
22homocystinuria10.4
23juvenile hereditary hemochromatosis10.3MMAB, MUT
24adnp syndrome10.3MMAA, MTR
25hyperammonemia10.3
26diabetic ketoacidosis10.3
27hyperglycemia10.2
28homocystinuria due to defect in methylation cbl g10.1MMACHC, MTR
29lipid pneumonia10.1MTR, TCN2
30renal tubular acidosis10.1
31pancytopenia10.1
32dystonia10.1
33neuropathy10.1
34homocysteinemia10.1
35cc2d2a-related meckel syndrome10.0MTR, MUT, TCN2
36serine deficiency10.0MTR, MUT, TCN2
37methylmalonic aciduria and homocystinuria type cblg10.0MTR, TCN2
38ichthyosis vulgaris10.0
39isovaleric acidemia10.0
40pulmonary hypertension10.0
41end stage renal failure10.0
42hepatitis10.0
43neutropenia10.0
44metabolic acidosis10.0
45generalized dystonia10.0
46ptosis10.0
47amblyopia10.0
48short bowel syndrome10.0
49ecthyma10.0
50gout10.0

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



Diseases related to methylmalonic acidemia

Symptoms for Methylmalonic Acidemia

About this section

UMLS symptoms related to Methylmalonic Acidemia:


hepatomegaly, lethargy, vomiting, respiratory distress, chyluria, pneumatouria, traumatic hematuria

Drugs & Therapeutics for Methylmalonic Acidemia

About this section

Drugs for Methylmalonic 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 3, Phase 223613422-51-011953898, 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 3, Phase 2237
5
MethylcobalaminNutraceuticalPhase 3, Phase 223713422-55-4
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
6
CyanocobalaminNutraceuticalPhase 3, Phase 223768-19-944176380
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
7carnitineNutraceuticalPhase 3152
8
cobalaminNutraceuticalPhase 3, Phase 223713408-78-16438156
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
9UbiquinonePhase 2132
10
ornithineNutraceuticalPhase 26770-26-86262
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
11FolateNutraceuticalPhase 24143
12
Folic AcidNutraceuticalPhase 2414359-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10

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

About this section

Genetic tests related to Methylmalonic Acidemia:

id Genetic test Affiliating Genes
1 Methylmalonic Acidemia25 23
2 Methylmalonic Aciduria25

Anatomical Context for Methylmalonic Acidemia

About this section

MalaCards organs/tissues related to Methylmalonic Acidemia:

34
Kidney, Liver, Pancreas, Brain, Globus pallidus, Subthalamic nucleus, Skin

Animal Models for Methylmalonic Acidemia or affiliated genes

About this section

Publications for Methylmalonic Acidemia

About this section

Articles related to Methylmalonic Acidemia:

(show top 50)    (show all 229)
idTitleAuthorsYear
1
Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia. (26790480)
2016
2
Isolated methylmalonic acidemia with unusual presentation mimicking diabetic ketoacidosis. (26581066)
2016
3
Treatment of Methylmalonic Acidemia by Liver or Combined Liver-Kidney Transplantation. (25771389)
2015
4
Liver transplantation in severe methylmalonic acidemia: The sooner, the better. (26362094)
2015
5
Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review. (25567501)
2015
6
Methylmalonic acidemia mimicking diabetic ketoacidosis and septic shock in infants. (25810618)
2015
7
Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia. (26370686)
2015
8
Clinical presentation, gene analysis and outcomes in young patients with early-treated combined methylmalonic acidemia and homocysteinemia (cblC type) in Shandong province, China. (26563984)
2015
9
MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia. (25190203)
2014
10
Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect. (23686626)
2013
11
Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type. (23580368)
2013
12
Methylmalonic acidemia and kidney transplantation. (23793882)
2013
13
Renal growth in isolated methylmalonic acidemia. (23639900)
2013
14
Gene therapy in a murine model of methylmalonic acidemia using rAAV9-mediated gene delivery. (21776024)
2012
15
Methylmalonic acidemia mimicking diabetic ketoacidosis in an infant. (21545677)
2012
16
Neurocognitive phenotype of isolated methylmalonic acidemia. (22614770)
2012
17
Subacute bilateral visual loss in methylmalonic acidemia. (21873889)
2011
18
Teaching NeuroImages: MRI in methylmalonic acidemia. (20101030)
2010
19
Fractional anisotropy for assessment of white matter tracts injury in methylmalonic acidemia. (19493420)
2009
20
Renal transplant in methylmalonic acidemia: could it be the best option? Report on a case at 10 years and review of the literature. (17401587)
2007
21
Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia. (17075691)
2007
22
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. (16281286)
2006
23
Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresis. (16823967)
2006
24
Three novel and six common mutations in 11 patients with methylmalonic acidemia. (16490061)
2006
25
Current role of liver transplantation for methylmalonic acidemia: a review of the literature. (17096763)
2006
26
Imaging of the brain, including diffusion-weighted imaging in methylmalonic acidemia. (15205843)
2004
27
Successful dialysis in a boy with methylmalonic acidemia. (14986089)
2004
28
Growth hormone deficiency associated with methylmalonic acidemia. (15055362)
2004
29
Metabolic stroke in methylmalonic acidemia five years after liver transplantation. (11865284)
2002
30
N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients. (11528502)
2001
31
A two-year-old female with methylmalonic acidemia and progressive low density lesions in the basal ganglia on CT scans. (10638145)
1999
32
Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations. (8990001)
1997
33
Methylmalonic acidemia: brain lesions in a case of vitamin B12 non-responsive (mut0) type. (8521625)
1995
34
Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia. (7996362)
1994
35
A case of fulminant ecthyma gangrenosum associated with Pseudomonas aeruginosa infection in a patient with methylmalonic acidemia. (8191230)
1994
36
Methylmalonic Acidemia (20301409)
1993
37
Methylmalonic acidemia with a severe chemical but benign clinical phenotype. (8441101)
1993
38
Cobalamin deficiency associated with methylmalonic acidemia in a cat. (1351478)
1992
39
Ketoacidotic crisis as a presentation of mild ("benign") methylmalonic acidemia. (2066863)
1991
40
Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia. (1970180)
1990
41
Substrate disposal in metabolic disease: a comparison between rates of in vivo propionate oxidation and urinary metabolite excretion in children with methylmalonic acidemia. (2809905)
1989
42
Propionate production in methylmalonic acidemia. (2572791)
1989
43
Comparison of cytosolic and mitochondrial enzyme alterations in the livers of propionic or methylmalonic acidemia: a reduction of cytochrome oxidase activity. (6287671)
1982
44
Inhibition of bone marrow stem cell growth in vitro by methylmalonic acid: a mechanism for pancytopenia in a patient with methylmalonic acidemia. (7254944)
1981
45
Immunochemical studies on cultured fibroblasts from patients with inherited methylmalonic acidemia. (6121323)
1981
46
Methylmalonic acid excretion in methylmalonic acidemia. (6929423)
1980
47
Methylmalonic acidemia - two cases. (527386)
1979
48
Letter: Possible hazards of neomycin treatment in methylmalonic acidemia. (4826734)
1974
49
Congenital methylmalonic acidemia: enzymatic evidence for two forms of the disease. (5257962)
1969
50
Observations on the coexistence of methylmalonic acidemia and glycinemia. (5778824)
1969

Variations for Methylmalonic Acidemia

About this section

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

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

Pathways for genes affiliated with Methylmalonic Acidemia

About this section

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

(show all 14)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.8MMAA, MUT
29.5MMACHC, TCN2
38.8MCEE, MUT, PCCA
4
Show member pathways
8.8MCEE, MUT, PCCA
5
Show member pathways
8.8MCEE, MUT, PCCA
68.8MCEE, MUT, PCCA
7
Show member pathways
8.5MCEE, MTR, MUT, PCCA
8
Show member pathways
8.5MCEE, MMAA, MUT, PCCA
9
Show member pathways
8.0GPD2, MCEE, MMAA, MUT, PCCA
107.6MMAA, MMAB, MMACHC, MMADHC, MTR, MUT
11
Show member pathways
7.2MMAA, MMACHC, MMADHC, MTR, MUT, PCCA
12
Show member pathways
7.2MMAA, MMACHC, MMADHC, MTR, MUT, PCCA
13
Show member pathways
6.8MMAA, MMAB, MMACHC, MMADHC, MTR, MUT
14
Show member pathways
5.8GPD2, MCEE, MMAA, MMAB, MMACHC, MMADHC

GO Terms for genes affiliated with Methylmalonic Acidemia

About this section

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00057598.3MCEE, MMAA, MMAB, MUT, PCCA
2mitochondrionGO:00057397.1GPD2, MCEE, MMAB, MMACHC, MMADHC, MUT

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

idNameGO IDScoreTop Affiliating Genes
1cobalamin biosynthetic processGO:00092369.7MMAA, MMAB, MMACHC
2short-chain fatty acid catabolic processGO:00196268.7MCEE, MMAA, MUT, PCCA
3cobalamin metabolic processGO:00092357.6MMAA, MMAB, MMACHC, MMADHC, MTR, MUT

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

idNameGO IDScoreTop Affiliating Genes
1cobalamin bindingGO:00314198.9MMACHC, MTR, MUT, TCN2

Sources for Methylmalonic Acidemia

About this section
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