MCID: MTH008
MIFTS: 52

Methylmalonic Acidemia malady

Genetic diseases, Rare diseases, Nephrological diseases, Metabolic diseases categories

Aliases & Classifications for Methylmalonic Acidemia

About this section
Sources:
10Disease Ontology, 11diseasecard, 68Wikipedia, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet
See all sources

Aliases & Descriptions for Methylmalonic Acidemia:

Name: Methylmalonic Acidemia 10 68 21 45 23 12 65
Methylmalonic Aciduria 10 21 22 23 47
Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 10 24 65
Methylmalonic Aciduria Cblb Type 10 45 65
Methylmalonic Aciduria, Mut Type 10 11 24
Methylmalonic Aciduria Cbla Type 45 24 65
Acidemia, Methylmalonic 45 22 24
Mma 68 45 23
Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cblb Type 10 45
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
Methylmalonicaciduria 21 22
 
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
Adenosylcobalamin Synthesis Defect 65
Methylmalonic Aciduria, Cbla Type 45
Methylmalonic Acidemia, Cbla Type 10
Methylmalonic Aciduria Type Cblb 10
Methylmalonic Aciduria Type Cbla 10
Methylmalonic Acidemia Cblb Type 45
Methylmalonic Acidemia Cbla Type 45
Isolated Methylmalonic Acidemia 23
Methylmalonic Aciduria Mut Type 10
Mma Cbl a Type 45


Classifications:



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


External Ids:

Disease Ontology10 DOID:14749
Orphanet51 79310, 79311
ICD10 via Orphanet28 E71.1
MESH via Orphanet37 C537360, C537361

Summaries for Methylmalonic Acidemia

About this section
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. last updated: 10/3/2011

MalaCards based summary: Methylmalonic Acidemia, also known as methylmalonic aciduria, is related to methylmalonic aciduria and homocystinuria, cblc type and methylmalonic aciduria and homocystinuria, cblf type. An important gene associated with Methylmalonic Acidemia is MMAA (Methylmalonic Aciduria (Cobalamin Deficiency) CblA Type), 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 phenotype liver/biliary system.

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, is an autosomal recessivemetabolic... more...

GeneReviews summary for mma

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 178)
idRelated DiseaseScoreTop Affiliating Genes
1methylmalonic aciduria and homocystinuria, cblc type31.2MMACHC, MTR
2methylmalonic aciduria and homocystinuria, cblf type31.1LMBRD1, MMACHC
3vitamin metabolic disorder30.7MTHFR, MTR, TCN2
4propionicacidemia29.9ACADM, HLCS, HMGCL, MUT, OTC, PCCA
5combined malonic and methylmalonic aciduria10.9
6vitamin b12-unresponsive methylmalonic acidemia10.7
7methylmalonic acidemia with homocystinuria, type cbld10.7
8homocystinuria10.6
9methylmalonic acidemia with homocystinuria10.6
10vitamin b12-responsive methylmalonic acidemia10.6
11hyperammonemia10.6
12monomelic amyotrophy10.6
13metabolic acidosis10.5
14sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria10.5
15succinate-coa ligase deficiency10.5
16amino acid metabolic disorder10.5
17inborn amino acid metabolism disorder10.5
18methylmalonic acidemia with homocystinuria, type cblj10.5
19methylmalonic acidemia due to methylmalonyl-coa epimerase deficiency10.5
20vitamin b12-unresponsive methylmalonic acidemia type mut-10.5
21benign focal amyotrophy10.5
22o'sullivan-mcleod syndrome10.5
23transcobalamin ii deficiency10.5
24megaloblastic anemia10.5
25methylmalonic aciduria microcephaly cataract10.5
26methylmalonic aciduria due to transcobalamin receptor defect10.4
27mental retardation, x-linked 310.4
28diabetic ketoacidosis10.4
29hyperglycemia10.4
30nutritional deficiency disease10.4
31mcee-related methylmalonic acidemia10.4
32mmaa-related methylmalonic acidemia10.4
33mmab-related methylmalonic acidemia10.4
34mmadhc-related methylmalonic acidemia10.4
35mut-related methylmalonic acidemia10.4
36methylmalonic acidemia with homocystinuria, type cblx10.4
37vitamin b12-unresponsive methylmalonic acidemia type mut010.4
38combined malonic and methylmalonic acidemia10.4
39vitamin b12-responsive methylmalonic acidemia, type cbldv210.4
40methylmalonic aciduria and homocystinuria type cblg10.4
41methylmalonic aciduria and homocystinuria type cble10.4
42suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria10.4
43fatal infantile lactic acidosis with methylmalonic aciduria10.4
44homocystinuria without methylmalonic aciduria10.4
45methylmalonic aciduria and homocystinuria, cbld type10.3
46methylmalonic aciduria, vitamin b12-responsive10.3
47methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type10.3
48renal tubular acidosis10.3
49pancytopenia10.3
50hyperhomocysteinemia10.3

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

About this section

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

(show all 13)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
HydroxocobalaminapprovedPhase 3, Phase 221713422-51-011953898, 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 3389443-48-14173
Synonyms:
1-(2-hydroxy-1-ethyl)-2-methyl-5-nitroimidazole
1-(2-hydroxyethyl)-2-methyl-5-nitroimidazole
1-(beta-Ethylol)-2-methyl-5-nitro-3-azapyrrole
1-(beta-Hydroxyethyl)-2-methyl-5-nitroimidazole
1-(beta-Oxyethyl)-2-methyl-5-nitroimidazole
1-(β-ethylol)-2-methyl-5-nitro-3-azapyrrole
1-(β-hydroxyethyl)-2-methyl-5-nitroimidazole
1-(β-oxyethyl)-2-methyl-5-nitroimidazole
1-Hydroxyethyl-2-methyl-5-nitroimidazole
2-(2-methyl-5-nitroimidazol-1-yl)ethanol
2-Methyl-5-nitro-1-imidazoleethanol
2-Methyl-5-nitroimidazole-1-ethanol
2-methyl-1-(2-hydroxyethyl)-5-nitroimidazole
2-methyl-3-(2-hydroxyethyl)-4-nitroimidazole
2-methyl-5-nitroimidazole-1-ethanol
443-48-1
46461_FLUKA
46461_RIEDEL
69198-10-3 (mono-hydrochloride)
99616-64-5
AB00052046
AC-10556
AC1L1HKS
AC1Q2P2Z
AKOS000269646
APMN
ARONIS24285
Acromona
Anagiardil
Apo-Metronidazole
Arilin
Atrivyl
BAS 02983617
BAY-5360
BCBcMAP01_000184
BIDD:GT0107
BPBio1_000004
BRD-K52020312-001-05-2
BRN 0611683
BSPBio_000002
BSPBio_002031
Bayer 5360
Bexon
Bio-0694
CAS-443-48-1
CB-01-14 MMX
CCRIS 410
CHEBI:39845
CHEBI:6909
CHEMBL137
CID4173
CONT
CPD000058175
Caswell No. 579AA
Clont
D00409
DB00916
Danizol
Deflamon
Deflamon-wirkstoff
DivK1c_000007
EINECS 207-136-1
EPA Pesticide Chemical Code 120401
Efloran
Elyzol
Entizol
Eumin
FLAGYL I.V. RTU IN PLASTIC CONTAINER
Flagemona
Flagesol
Flagil
Flagyl
Flagyl (TN)
Flagyl 375
Flagyl Er
Flagyl I.V.
Flagyl I.V. RTU
Flegyl
Florazole
Fossyol
Giatricol
Ginefla vir
Gineflavir
HMS1568A04
HMS1920N19
HMS2051G07
HMS2090B19
HMS2091F14
HMS500A09
HMS547C19
HSDB 3129
I14-0667
IDI1_000007
IDR-90105
KBio1_000007
KBio2_001515
KBio2_004083
KBio2_006651
KBio3_001531
KBioGR_000559
KBioSS_001515
Klion
Klont
LS-1264
M0924
M1547_SIGMA
M3761_FLUKA
M3761_SIGMA
M9036_SIGMA
METRO I.V
METRONIDAZOLE USP
MLS000028590
MLS000758286
Maybridge1_001999
Meronidal
Methronidazole
Methyl-5-nitroimidazole-1-ethanol
Metric
Metric 21
Metro Cream
Metro Gel
 
Metro I.V.
Metro I.V. In Plastic Container
MetroCream
MetroGel
MetroGel-Vaginal
MetroLotion
Metrocream
Metrodzhil
Metrogel
Metrogel-vaginal
Metrogel-vaginal (TN)
Metrogyl
Metrolag
Metrolotion
Metrolyl
Metromidol
Metronidaz
Metronidazol
Metronidazol [INN-Spanish]
Metronidazole
Metronidazole (JP15/USP/INN)
Metronidazole Benzoate
Metronidazole Monohydrochloride
Metronidazole Phosphoester
Metronidazole Topical Gel
Metronidazole [USAN:INN:BAN:JAN]
Metronidazole hydrochloride
Metronidazole in Plastic Container
Metronidazolo
Metronidazolo [DCIT]
Metronidazolum
Metronidazolum [INN-Latin]
Metrotop
Metrozine
Metryl
Mexibol
Mexibol 'silanes'
MolPort-000-141-892
MolPort-002-502-101
Monagyl
Monasin
NCGC00016446-01
NCGC00016446-02
NCGC00022059-03
NCGC00022059-04
NCGC00022059-05
NCIOpen2_000337
NIDA
NINDS_000007
NSC 50364
NSC 69587
NSC-50364
NSC50364
NSC69587
Nalox
Nidagel
Noritate
Noritate (TN)
Novonidazol
Orvagil
Prestwick0_000081
Prestwick1_000081
Prestwick2_000081
Prestwick3_000081
Prestwick_334
Protostat
RP 8823
RP-8823
Rathimed
Rosadan
Rosased
S1907_Selleck
SAM001247010
SBB041018
SC 10295
SMP1_000189
SMR000058175
SPBio_000666
SPBio_001941
SPECTRUM1500412
STK177359
Sanatrichom
Satric
Spectrum2_000883
Spectrum3_000506
Spectrum4_000060
Spectrum5_001289
Spectrum_001035
Takimetol
Trichazol
Trichex
Tricho cordes
Tricho-gynaedron
Trichocide
Trichomol
Trichomonacid 'pharmachim'
Trichopal
Trichopol
Tricocet
Tricom
Tricowas B
Trikacide
Trikamon
Trikojol
Trikozol
Trimeks
Trivazol
UNII-140QMO216E
Vagilen
Vagimid
Vandazole
Vertisal
WLN: T5N CNJ A2Q B1 ENW
WLN: T5N CNJA2Q B1 ENW
WLN: T6NTJ DQ ANU1- ET5N CNJ A1 BNW
Wagitran
ZERO/004064
ZINC00113442
Zadstat
Zidoval
giniflavir
metronidazole
neo-Tric
3
Biotinapproved, nutraceuticalPhase 33458-85-5171548
Synonyms:
(+)-Biotin
(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valerate
(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid
(3AS,4S,6ar)-hexahydro-2-oxo-1H-thieno[3,4-D]imidazole-4-valeric acid
(3aS,4S,6aR)-Hexahydro-2-oxo-1H-thieno[3,4-D]imidazole-4-valerate
(3aS,4S,6aR)-Hexahydro-2-oxo-1H-thieno[3,4-D]imidazole-4-valeric acid
-(+)-biotin
1swk
1swn
1swr
5-(2-Oxohexahydro-1H-thieno[3,4-D]imidazol-4-yl)pentanoate
5-(2-Oxohexahydro-1H-thieno[3,4-D]imidazol-4-yl)pentanoic acid
Biodermatin
Bioepiderm
Bios II
Bios h
Biotin
Biotina
Biotine
Biotinum
Coenzyme R
D(+)-Biotin
 
D-(+)-Biotin
D-Biotin
D-Biotin factor S
Factor S
Factor S (vitamin)
Hexahydro-2-oxo-1H-thieno(3,4-D)imidazole-4-pentanoate
Hexahydro-2-oxo-1H-thieno(3,4-D)imidazole-4-pentanoic acid
Hexahydro-2-oxo-[3aS-(3aa,4b,6aa)]-1H-Thieno[3,4-D]imidazole-4-pentanoate
Hexahydro-2-oxo-[3aS-(3aa,4b,6aa)]-1H-Thieno[3,4-D]imidazole-4-pentanoic acid
Hexahydro-2-oxo-[3as-(3alpha,4beta,6alpha)]-1H-Thieno[3,4-D]imidazole-4-pentanoate
Hexahydro-2-oxo-[3as-(3alpha,4beta,6alpha)]-1H-Thieno[3,4-D]imidazole-4-pentanoic acid
Lutavit H2
Meribin
Rovimix H 2
Vitamin B7
Vitamin H
Vitamin-h
cis-(+)-Tetrahydro-2-oxothieno[3,4]imidazoline-4-valerate
cis-(+)-Tetrahydro-2-oxothieno[3,4]imidazoline-4-valeric acid
cis-Hexahydro-2-oxo-1H-thieno(3,4)imidazole-4-valeric acid
cis-Tetrahydro-2-oxothieno(3,4-D)imidazoline-4-valeric acid
delta-(+)-Biotin
delta-Biotin
delta-Biotin factor S
4
Cyanocobalaminapproved, nutraceuticalPhase 3, Phase 221768-19-944176380, 44176380, 5462245
Synonyms:
Anacobin
Bedoz
Berocca PN
Berubigen
Betalin 12
Betalin 12 Crystalline
Betaline-12
Betolvex
Bevidox
Bevidox concentrate
Biocobalamine
Byladoce
Cabadon m
Cernevit-12
Cobadoce forte
Cobalin
Cobavite
Cobex
Cobolin-M
Copharvit 5000
Covit
Crystamin
Crystamine
Crysti-12
Crystimin
Crystwel
Cyano-B12
Cyanobalamin concentrate
Cyanocob(III)alamin
Cyanocobalamin
Cyanocobalamin (JP15/USP)
Cyanocobalamin Co 57 Schilling Test Kit
Cyanocobalamine
Cyanocobalmin
Cyanoject
Cycobemin
Cycolamin
Cykobemin
Cykobeminet
Cyomin
Cyredin
Cytacon
Cytamen
Cytobion
Depinar
Dicopac
Dicopac Kit
Dimethylbenzimidazoylcobamide
Distivit
Docemine
Docibin
Docivit
Dodecabee
Dodecavite
Dodex
Duodecibin
Embiol
Emociclina
Eritrone
 
Erycytol
Erythrotin
Euhaemon
Extrinsic factor
Factor II
Fermin
Fresmin
Hemomin
Hepagon
Hepavis
Hepcovite
Hylugel plus
Infuvite Pediatric
Lactobacillus lactis dorner factor
M.V.I. Pediatric
Macrabin
Megabion
Megalovel
Milbedoce
Millevit
Nagravon
Nascobal
Nascobal (TN)
Neuroforte-R
Normocytin
Novidroxin
Pernaemon
Pernaevit
Pernipuron
Plecyamin
Poyamin
Primabalt
Rebramin
Redamina
Redisol
Rhodacryst
Rubesol
Rubivite
Rubramin
Rubramin PC
Rubratope-57 Kit
Rubratope-60 Kit
Rubripca
Rubrocitol
Ruvite
Shovite
Sytobex
Vi-Twel
Vibal
Vibalt
Vibisone
Virubra
Vita-rubra
Vitabee 12
Vitamin B12
Vitamin B12 Preparation
Vitamin B12 complex
Vitaped
Vitarubin
Vitral
vitamine b12
5Vitamin B ComplexPhase 32775
6Vitamin B 12Phase 3, Phase 2224
7Vitamin B7NutraceuticalPhase 334
8
MethylcobalaminNutraceuticalPhase 3, Phase 221713422-55-4
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
9Vitamin B12NutraceuticalPhase 3, Phase 2217
10carnitineNutraceuticalPhase 3138
11
CobalaminNutraceuticalPhase 3, Phase 221713408-78-16438156
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
12
Ornithineapproved, nutraceuticalPhase 23170-26-86262
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
13Glutamic AcidNutraceuticalPhase 2187

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 24
2 Methylmalonic Aciduria Cbla Type24
3 Methylmalonic Aciduria Cblb Type24
4 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency24
5 Methylmalonic Aciduria, Mut(-) Type24

Anatomical Context for Methylmalonic Acidemia

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MalaCards organs/tissues related to Methylmalonic Acidemia:

33
Kidney, Liver, Pancreas, Bone, Brain, Globus pallidus, Subthalamic nucleus

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:00053708.3ACADM, GPD2, HMGCL, MUT, OTC, PCCA

Publications for Methylmalonic Acidemia

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Articles related to Methylmalonic Acidemia:

(show top 50)    (show all 216)
idTitleAuthorsYear
1
Optic neuropathy in methylmalonic acidemia and propionic acidemia. (26209586)
2015
2
Insights into the molecular mechanisms of methylmalonic acidemia using microarray technology. (26309541)
2015
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
Early Liver Transplantation for Neonatal-Onset Methylmalonic Acidemia. (26077484)
2015
7
Methylmalonic acidemia mimicking diabetic ketoacidosis and septic shock in infants. (25810618)
2015
8
MicroRNA-9 regulates neural apoptosis in methylmalonic acidemia via targeting BCL2L11. (24798023)
2014
9
Skin manifestation of methylmalonic acidemia; a rare case. (25058035)
2014
10
MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia. (25190203)
2014
11
Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect. (23686626)
2013
12
Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L). (24330302)
2013
13
Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type. (23580368)
2013
14
Methylmalonic acidemia and kidney transplantation. (23793882)
2013
15
Pregnancy in a methylmalonic acidemia patient with kidney transplantation: a case report. (23711287)
2013
16
Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type. (23954310)
2013
17
Gene therapy in a murine model of methylmalonic acidemia using rAAV9-mediated gene delivery. (21776024)
2012
18
Pre-clinical efficacy and dosing of an AAV8 vector expressing human methylmalonyl-CoA mutase in a murine model of methylmalonic acidemia (MMA). (23046887)
2012
19
Subacute bilateral visual loss in methylmalonic acidemia. (21873889)
2011
20
Growth hormone therapy in neonatal patients with methylmalonic acidemia. (19762313)
2009
21
Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia]. (19573432)
2009
22
Brain damage by mild metabolic derangements in methylmalonic acidemia. (18940555)
2008
23
Methylmalonic acidemia: brain imaging findings in 52 children and a review of the literature. (18636250)
2008
24
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
25
Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia. (17075691)
2007
26
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. (16281286)
2006
27
Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresis. (16823967)
2006
28
Imaging of the brain, including diffusion-weighted imaging in methylmalonic acidemia. (15205843)
2004
29
Successful dialysis in a boy with methylmalonic acidemia. (14986089)
2004
30
Magnetic resonance imaging and spectroscopy in a patient with treated methylmalonic acidemia. (12886142)
2003
31
Metabolic stroke in methylmalonic acidemia five years after liver transplantation. (11865284)
2002
32
A two-year-old female with methylmalonic acidemia and progressive low density lesions in the basal ganglia on CT scans. (10638145)
1999
33
Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations. (8990001)
1997
34
Effective immunoglobulin therapy for brief tonic seizures in methylmalonic acidemia. (9408601)
1997
35
Methylmalonic acidemia: brain lesions in a case of vitamin B12 non-responsive (mut0) type. (8521625)
1995
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
Misidentification of propionic acid as ethylene glycol in a patient with methylmalonic acidemia. (1538288)
1992
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
Proximal renal tubular acidosis in methylmalonic acidemia. (4020528)
1985
43
Inhibition of bone marrow stem cell growth in vitro by methylmalonic acid: a mechanism for pancytopenia in a patient with methylmalonic acidemia. (7254944)
1981
44
Failure of the normal ureagenic response to amino acids in organic acid-loaded rats. Proposed mechanism for the hyperammonemia of propionic and methylmalonic acidemia. (7400325)
1980
45
Methylmalonic acidemia. (27367)
1978
46
Congenital methylmalonic acidemia: a variant of the B12 'non-responsive' form with evidence for reduced affinity of methylmalonyl-CoA mutase for its B12-coenzyme. (12939)
1976
47
Letter: Possible hazards of neomycin treatment in methylmalonic acidemia. (4826734)
1974
48
Methylmalonic acidemia and vitamin B12 dependency. (5452307)
1970
49
Prenatal detection of methylmalonic acidemia. (5450273)
1970
50
Congenital methylmalonic acidemia: enzymatic evidence for two forms of the disease. (5257962)
1969

Variations for Methylmalonic Acidemia

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Clinvar genetic disease variations for Methylmalonic Acidemia:

5 (show all 15)
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.278G> A (p.Arg93His)single nucleotide variantPathogenicrs121918251GRCh37Chr 6, 49426902: 49426902
4MUTNM_000255.3(MUT): c.2150G> T (p.Gly717Val)single nucleotide variantPathogenicrs121918252GRCh37Chr 6, 49399544: 49399544
5MMABNM_052845.3(MMAB): c.700C> T (p.Gln234Ter)single nucleotide variantPathogenicrs369296618GRCh37Chr 12, 109994886: 109994886
6MMABNM_052845.3(MMAB): c.556C> T (p.Arg186Trp)single nucleotide variantPathogenicrs28941784GRCh37Chr 12, 109998873: 109998873
7MMABMMAB, IVS3, G-A, -1single nucleotide variantPathogenic
8MMABMMAB, 5-BP DEL, NT572deletionPathogenic
9MMAAMMAA, 4-BP DEL, 592ACTGdeletionPathogenic
10MMAAMMAA, 8-BP INS, NT260insertionPathogenic
11MMAANM_172250.2(MMAA): c.283C> T (p.Gln95Ter)single nucleotide variantPathogenicrs104893846GRCh37Chr 4, 146560574: 146560574
12MMAANM_172250.2(MMAA): c.620A> G (p.Tyr207Cys)single nucleotide variantPathogenicrs104893849GRCh37Chr 4, 146567195: 146567195
13MMAANM_172250.2(MMAA): c.433C> T (p.Arg145Ter)single nucleotide variantPathogenicrs104893851GRCh37Chr 4, 146560724: 146560724
14MUTNM_000255.3(MUT): c.1445-2A> Gsingle nucleotide variantPathogenicrs398123276GRCh37Chr 6, 49415500: 49415500
15MUTNM_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 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
10.1MMAA, MUT
2
Show member pathways
9.7PC, PCCA
39.7MCEE, MUT, PCCA
4
Show member pathways
9.7MCEE, MUT, PCCA
59.3LMBRD1, MMACHC, TCN2
6
Show member pathways
9.1ACADM, MCEE, MMAA, MUT, PCCA
7
Show member pathways
9.0ACADM, HMGCL, MCEE, MUT, PCCA
88.5ACADM, MCEE, MUT, PCCA, SUCLA2
9
Show member pathways
8.3ACADM, GPD2, HMGCL, MCEE, MMAA, MUT
10
Show member pathways
8.3MMAA, MMACHC, MMADHC, MTR, MUT, PC
11
Show member pathways
8.3MMAA, MMACHC, MMADHC, MTR, MUT, PC
128.2LMBRD1, MMAA, MMAB, MMACHC, MMADHC, MTR
13
Show member pathways
7.1ACADM, MCEE, MTHFR, MTR, MUT, OTC
14
Show member pathways
6.5HLCS, LMBRD1, MMAA, MMAB, MMACHC, MMADHC
15
Show member pathways
3.9ACADM, GPD2, HLCS, HMGCL, LMBRD1, MCEE

GO Terms for genes affiliated with Methylmalonic Acidemia

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00057596.9ACADM, HMGCL, MCEE, MMAA, MMAB, MUT
2mitochondrionGO:00057395.3ACADM, GPD2, HLCS, HMGCL, MCEE, MMAB

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1cobalamin biosynthetic processGO:000923610.5MMAA, MMAB, MMACHC
2methionine biosynthetic processGO:000908610.4MTHFR, MTR
3homocysteine metabolic processGO:005066710.3MTHFR, MUT
4response to biotinGO:007078110.2HLCS, OTC
5short-chain fatty acid catabolic processGO:001962610.1MCEE, MMAA, MUT, PCCA
6liver developmentGO:00018899.9ACADM, HMGCL, OTC
7biotin metabolic processGO:00067689.8HLCS, PC, PCCA
8fatty acid beta-oxidationGO:00066359.6ACADM, MCEE, MMAA, MUT, PCCA
9cobalamin metabolic processGO:00092358.7LMBRD1, MMAA, MMAB, MMACHC, MMADHC, MTR
10cellular lipid metabolic processGO:00442558.6ACADM, GPD2, HMGCL, MCEE, MMAA, MUT
11vitamin metabolic processGO:00067666.7HLCS, LMBRD1, MMAA, MMAB, MMACHC, MMADHC
12water-soluble vitamin metabolic processGO:00067676.7HLCS, LMBRD1, MMAA, MMAB, MMACHC, MMADHC
13small molecule metabolic processGO:00442813.9ACADM, GPD2, HLCS, HMGCL, LMBRD1, MCEE

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1isomerase activityGO:001685310.5ACADM, MUT
2biotin carboxylase activityGO:000407510.5PC, PCCA
3modified amino acid bindingGO:007234110.3MTHFR, MUT
4fatty-acyl-CoA bindingGO:000006210.2ACADM, HMGCL
5biotin bindingGO:00093749.9HLCS, PC, PCCA
6cobalamin bindingGO:00314199.4LMBRD1, MMACHC, MTR, MUT, TCN2
7catalytic activityGO:00038248.7HMGCL, MUT, PC, PCCA, SUCLA2
8metal ion bindingGO:00468727.7HMGCL, MCEE, MTR, MUT, PC, PCCA

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