MMA
MCID: MTH008
MIFTS: 62

Methylmalonic Acidemia (MMA) malady

Nephrological, Metabolic categories

Summaries for Methylmalonic Acidemia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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: Methylmalonic Acidemia, also known as methylmalonic aciduria cblb type, is related to propionic acidemia and homocystinuria, and has symptoms including autosomal recessive inheritance, autosomal recessive inheritance and autosomal recessive inheritance. An important gene associated with Methylmalonic Acidemia is MUT (methylmalonyl CoA mutase), and among its related pathways are Glyoxylate and dicarboxylate metabolism and Vitamin digestion and absorption. The compounds l-methylmalonyl-coa and corrinoid have been mentioned in the context of this disorder.

Disease Ontology:8 An organic acidemia that involves an accumulation of methylmalonic acid in the blood.

Genetics Home Reference:21 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:64 Methylmalonic acidemia (MMA), also called methylmalonic aciduria, is an autosomal recessivemetabolic... more...

Description from OMIM:47 251100,251110,251000

GeneReviews summary for mma

Aliases & Classifications for Methylmalonic Acidemia

Sources:
8Disease Ontology, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 61UMLS, 45Novoseek, 9diseasecard, 47OMIM, 22GTR, 20GeneTests, 49Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Nephrological, Metabolic


Characteristics (Orphanet epidemiological data):

49
vitamin b12-unresponsive methylmalonic acidemia:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Before age 5
vitamin b12-unresponsive methylmalonic acidemia type mut0:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy
vitamin b12-unresponsive methylmalonic aciduria type mut-:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

methylmalonic acidemia 8 64 19 43 21 10 61
methylmalonic aciduria cblb type 8 43 22 61
methylmalonic aciduria 8 19 21 45
methylmalonic aciduria, mut type 8 9 47
methylmalonic aciduria cbla type 43 22 61
acidemia, methylmalonic 43 20 22
mma 64 43 21
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 8 22
methylmalonic aciduria mut type 8 22
methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cbla complementation type 43
methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cbla type 8
methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb type 8
methylmalonicaciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin--cbl a 8
methylmalonicaciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin--cbl b 8
methylmalonicaciduria due to methylmalonic coa mutase deficiency 8
vitamin b12-unresponsive methylmalonic acidemia type mut0 49
vitamin b12-unresponsive methylmalonic aciduria type mut- 49
vitamin b12-unresponsive methylmalonic aciduria type mut0 49
vitamin b12-unresponsive methylmalonic acidemia type mut- 49
vitamin b12-unresponsive methylmalonic acidemia 49
complete deficiency of methylmalonyl-coa mutase 49
vitamin b12-unresponsive methylmalonic aciduria 49
partial deficiency of methylmalonyl-coa mutase 49
methylmalonic acidemia, cbla type 8
methylmalonic acidemia, cblb type 8
methylmalonic acidemia cblb type 43
methylmalonic aciduria type cbla 8
methylmalonic aciduria type cblb 8
methylmalonic acidemia cbla type 43
isolated methylmalonic acidemia 21
methylmalonicaciduria 19
mma cbl a type 43


External Ids:

Disease Ontology8 DOID:14749
ICD10 via Orphanet26 E71.1

Related Diseases for Methylmalonic Acidemia

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Methylmalonic Acidemia family:

methylmalonic acidemia with homocystinuria methylmalonic acidemia with homocystinuria, type cblj
methylmalonic acidemia with homocystinuria, type cblx methylmalonic acidemia without homocystinuria

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

(show top 50)    (show all 89)
idRelated DiseaseScoreTop Affiliating Genes
1propionic acidemia31.0MUT, MMD, HMGCL
2homocystinuria30.8MTR, MUT, TCN2, HMGCL, MMACHC, MMD
3megaloblastic anemia30.6MTR, TCN2
4homocysteinemia30.2MTR
5isovaleric acidemia30.2HMGCL
6hyperhomocysteinemia30.2MMD, MTR
7metabolic acidosis30.2PC, HMGCL
8neural tube defects30.2MTR, TCN2
9methylmalonic acidemia with homocystinuria10.5
10cblc10.5
11monomelic amyotrophy10.5
12benign focal amyotrophy10.5
13methylmalonic aciduria and homocystinuria type cbld10.5
14o'sullivan-mcleod syndrome10.4
15methylmalonic aciduria and homocystinuria type cblf10.4
16sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria10.4
17methylmalonic aciduria microcephaly cataract10.4
18cblf10.4
19mitochondrial dna depletion syndrome 510.4
20methylmalonic aciduria and homocystinuria, cblj type10.4
21renal tubular acidosis10.3
22methylmalonic aciduria and homocystinuria type cblc10.3
23mmaa-related methylmalonic acidemia10.3
24mmab-related methylmalonic acidemia10.3
25mut-related methylmalonic acidemia10.3
26mcee-related methylmalonic acidemia10.3
27mmadhc-related methylmalonic acidemia10.3
28methylmalonyl-coa epimerase deficiency10.3
29homocystinuria, cbld type, variant 110.3
30methylmalonic aciduria, vitamin b12-responsive10.3
31methylmalonic aciduria due to transcobalamin receptor defect10.3
32methylmalonic acidemia with homocystinuria, type cblj10.3
33methylmalonic acidemia with homocystinuria, type cblx10.3
34methylmalonic acidemia without homocystinuria10.3
35methylmalonic aciduria and homocystinuria type cble10.3
36methylmalonic aciduria and homocystinuria type cblg10.3
37n syndrome10.3
38encephalomyopathy10.3
39suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria10.3
40succinate-coa ligase deficiency10.3
41methylmalonic aciduria, cbld type, variant 210.3
42homocystinuria-megaloblastic anemia, cbl e type10.3
43ichthyosis vulgaris10.2
44diabetic ketoacidosis10.2
45pancytopenia10.2
46short bowel syndrome10.2
47ecthyma10.2
48amblyopia10.2
49short syndrome10.2
50combined malonic and methylmalonic aciduria10.2

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



Diseases related to methylmalonic acidemia

Clinical Features for Methylmalonic Acidemia

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

251100,251110,251000

Clinical synopsis from OMIM:

251000

Symptoms:

49 (show all 36)
  • autosomal recessive inheritance
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • ataxia/incoordination/trouble of the equilibrium
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • elocution disorders/dysarthria/dysphonia
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • chorea/athetosis/choreoathetosis/choreic syndrome
  • hypotonia
  • early death/lethality
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • obnubilation/coma/lethargia/desorientation
  • renal tubular defect/tubulopathy
  • dehydration/hydroelectrolytic loss
  • renal failure
  • cardiomyopathy/hypertrophic/dilated
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • movement disorder
  • anaemia
  • acute abdominal pain/colic
  • thrombocytopenia/thrombopenia
  • pancreatitis
  • anorexia
  • interstitial nephropathy
  • dystonia/torticollis/writer's cramp/blepharospasms
  • polynuclear cells/neutrophils anomalies/neutropenia
  • intracranial/cerebral/meningeal hemorrhage
  • sepsis severe/septicemia
  • hyperammonemia
  • leukopenia/hypoleukocytosis

Drugs & Therapeutics for Methylmalonic Acidemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Methylmalonic Acidemia

Drug clinical trials:

Search ClinicalTrials for Methylmalonic Acidemia

Search NIH Clinical Center for Methylmalonic Acidemia

Search CenterWatch for Methylmalonic Acidemia

Genetic Tests for Methylmalonic Acidemia

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Methylmalonic Acidemia:

id Genetic test Affiliating Genes
1 Methylmalonic Acidemia20 22
2 Methylmalonic Aciduria Cbla Type22
3 Methylmalonic Aciduria Cblb Type22
4 Methylmalonic Aciduria Due To Methylmalonyl-coa Mutase Deficiency22
5 Methylmalonic Aciduria, Mut(-) Type22
6 Methylmalonic Aciduria, Mut(0) Type22

Anatomical Context for Methylmalonic Acidemia

Animal Models for Methylmalonic Acidemia or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Methylmalonic Acidemia

Sources:
51PubMed
See all sources

Articles related to Methylmalonic Acidemia:

(show top 50)    (show all 194)
idTitleAuthorsYear
1
Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia. (24406457)
2014
2
Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type. (23580368)
2013
3
Methylmalonic acidemia and kidney transplantation. (23793882)
2013
4
Affective disorder as the first manifestation of methylmalonic acidemia: a case report. (23724196)
2013
5
Bilateral subthalamic nucleus deep brain stimulation for refractory total body dystonia secondary to metabolic autopallidotomy in a 4-year-old boy with infantile methylmalonic acidemia: case report. (23952031)
2013
6
Pre-clinical efficacy and dosing of an AAV8 vector expressing human methylmalonyl-CoA mutase in a murine model of methylmalonic acidemia (MMA). (23046887)
2012
7
Methylmalonic acidemia mimicking diabetic ketoacidosis in an infant. (21545677)
2012
8
Methylmalonic acidemia and hyperglycemia: an unusual association. (21802231)
2012
9
Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management. (21748409)
2012
10
Subacute bilateral visual loss in methylmalonic acidemia. (21873889)
2011
11
Methylmalonic acidemia in mainland China. (21912104)
2011
12
Association of methylmalonic acidemia and erythema nodosum. (23365484)
2011
13
Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations. (21048060)
2011
14
Fractional anisotropy for assessment of white matter tracts injury in methylmalonic acidemia. (19493420)
2009
15
Analysis of the MUT gene mutations in patients with methylmalonic acidemia]. (19806564)
2009
16
Brain damage by mild metabolic derangements in methylmalonic acidemia. (18940555)
2008
17
Continuous hemodiafiltration in the treatment of hyperammonemia due to methylmalonic acidemia. (17763173)
2007
18
Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia. (17410422)
2007
19
Hyperkalemia after acute metabolic decompensation in two children with vitamin B12-unresponsive methylmalonic acidemia and normal renal function. (16878438)
2006
20
Imaging of the brain, including diffusion-weighted imaging in methylmalonic acidemia. (15205843)
2004
21
Severe generalized dystonia induced by metoclopramide in a girl with methylmalonic acidemia. (12581813)
2003
22
Living-related liver transplantation for methylmalonic acidemia: report of one case. (14521026)
2003
23
Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements. (12438653)
2002
24
N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients. (11528502)
2001
25
Benign methylmalonic acidemia in a sibship with distal renal tubular acidosis. (9761355)
1998
26
Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC). (9470012)
1998
27
Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations. (8990001)
1997
28
Clustering of mutations in methylmalonyl CoA mutase associated with mut-methylmalonic acidemia. (7912889)
1994
29
Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia. (7951229)
1994
30
Tubulointerstitial nephritis in methylmalonic acidemia. (8439488)
1993
31
Selective death of immature neurons in methylmalonic acidemia of the neonate: a case report. (8442414)
1993
32
Cobalamin deficiency associated with methylmalonic acidemia in a cat. (1351478)
1992
33
Progressive renal insufficiency in methylmalonic acidemia. (1867988)
1991
34
Perspectives on methylmalonic acidemia resulting from molecular cloning of methylmalonyl CoA mutase. (1975493)
1990
35
Propionate production in methylmalonic acidemia. (2572791)
1989
36
Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria. (3257264)
1988
37
Proximal renal tubular acidosis in methylmalonic acidemia. (4020528)
1985
38
Comparison of cytosolic and mitochondrial enzyme alterations in the livers of propionic or methylmalonic acidemia: a reduction of cytochrome oxidase activity. (6287671)
1982
39
Inhibition of bone marrow stem cell growth in vitro by methylmalonic acid: a mechanism for pancytopenia in a patient with methylmalonic acidemia. (7254944)
1981
40
Lysine intolerance in methylmalonic acidemia. (6770332)
1980
41
Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemia. (500823)
1979
42
Methylmalonic acidemia. (27367)
1978
43
Methylmalonyl-CoA mutase activity of leukocytes in variants and heterozygotes of methylmalonic acidemia. (21471)
1977
44
Prenatal therapy of a patient with vitamin-B12-responsive methylmalonic acidemia. (239344)
1975
45
Editorial: Prenatal treatment of methylmalonic acidemia. (1152927)
1975
46
In vitro "responsive" methylmalonic acidemia: a new variant. (4852378)
1974
47
The occurrence of beta-hydroxy-n-valeric acid in a patient with propionic and methylmalonic acidemia. (4730209)
1973
48
Methylmalonic acidemia and vitamin B12 dependency. (5452307)
1970
49
Prenatal detection of methylmalonic acidemia. (5450273)
1970
50
Methylmalonic acidemia. A disorder associated with acidosis, hyperglycinemia, and hyperlactatemia. (5706053)
1968

Genetic Variations for Methylmalonic Acidemia

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Methylmalonic Acidemia:

63 (show all 84)
id Symbol AA change Variation SNP ID
1MUTp.Arg93HisVAR_004409rs121918251
2MUTp.Trp105ArgVAR_004410
3MUTp.Ala191GluVAR_004411
4MUTp.Arg228GlnVAR_004412
5MUTp.Tyr231AsnVAR_004413
6MUTp.Gly312ValVAR_004414
7MUTp.Val368AspVAR_004416
8MUTp.Arg369HisVAR_004417
9MUTp.Ala377GluVAR_004418
10MUTp.Gly623ArgVAR_004420
11MUTp.Gly626CysVAR_004421
12MUTp.Gly630GluVAR_004422
13MUTp.Val633GlyVAR_004423
14MUTp.Gly648AspVAR_004424
15MUTp.Val669GluVAR_004425
16MUTp.His678ArgVAR_004427
17MUTp.Leu685ArgVAR_004429
18MUTp.Arg694TrpVAR_004430
19MUTp.Gly703ArgVAR_004431
20MUTp.Gly717ValVAR_004432
21MUTp.Gly94ValVAR_022393
22MUTp.Arg108HisVAR_022394
23MUTp.Ala137ValVAR_022395
24MUTp.Ser148LeuVAR_022396
25MUTp.Asp156AsnVAR_022397
26MUTp.Gly158ValVAR_022398
27MUTp.Phe174SerVAR_022399
28MUTp.Gly203ArgVAR_022400
29MUTp.Gly215SerVAR_022401
30MUTp.Gln218HisVAR_022402
31MUTp.Asn219TyrVAR_022403
32MUTp.Ser262AsnVAR_022404
33MUTp.Gln293ProVAR_022405
34MUTp.Leu328PheVAR_022406
35MUTp.Ala535ProVAR_022408
36MUTp.Tyr587CysVAR_022409
37MUTp.Pro615ThrVAR_022410
38MUTp.Lys621AsnVAR_022411
39MUTp.Gln624ArgVAR_022412
40MUTp.His627ArgVAR_022413
41MUTp.Gly637GluVAR_022414
42MUTp.Phe638IleVAR_022415
43MUTp.Asp640TyrVAR_022416
44MUTp.Gly642ArgVAR_022417
45MUTp.Met700LysVAR_022418
46MUTp.Gln109ArgVAR_023473
47MUTp.Ala324ThrVAR_023474
48MUTp.Leu328ProVAR_023475
49MUTp.Arg616CysVAR_023476
50MUTp.Leu617ArgVAR_023477
51MUTp.Pro86LeuVAR_026592
52MUTp.Gly87GluVAR_026593
53MUTp.Gly94ArgVAR_026594
54MUTp.Pro95ArgVAR_026595
55MUTp.Arg108CysVAR_026596rs121918257
56MUTp.Arg108GlyVAR_026597
57MUTp.Gly145SerVAR_026598
58MUTp.Met186ValVAR_026599
59MUTp.Asn189LysVAR_026600
60MUTp.Ala197GluVAR_026601
61MUTp.Gly215CysVAR_026602
62MUTp.Thr230IleVAR_026603
63MUTp.His265TyrVAR_026604
64MUTp.Leu281SerVAR_026605
65MUTp.Gly291GluVAR_026606
66MUTp.Leu305SerVAR_026607
67MUTp.Ser306PheVAR_026608
68MUTp.Tyr316CysVAR_026609
69MUTp.Leu347ArgVAR_026610
70MUTp.His350TyrVAR_026611
71MUTp.Arg369CysVAR_026612
72MUTp.Thr370ProVAR_026613
73MUTp.Gln383HisVAR_026614
74MUTp.Gln383ProVAR_026615
75MUTp.His386AsnVAR_026616
76MUTp.Asn388HisVAR_026617
77MUTp.Gly426ArgVAR_026620
78MUTp.Gly427AspVAR_026621
79MUTp.Leu518ProVAR_026622
80MUTp.Cys560TyrVAR_026623
81MUTp.Thr566ArgVAR_026624
82MUTp.Phe573SerVAR_026625
83MUTp.Pro615ArgVAR_026626
84MUTp.Gly637ArgVAR_026627

Expression for genes affiliated with Methylmalonic Acidemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Methylmalonic Acidemia

Search GEO for disease gene expression data for Methylmalonic Acidemia.

Pathways for genes affiliated with Methylmalonic Acidemia

Sources:
30KEGG, 54Reactome, 38NCBI BioSystems Database, 50PharmGKB, 12EMD Millipore
See all sources

Pathways related to Methylmalonic Acidemia according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1MCEE, MUT
210.0MMACHC, TCN2
3
Hide members
10.0MUT, MMAA, MCEE
4
Hide members
10.0MCEE, MUT, MMAA
5
Hide members
9.9MTR, MCEE, MUT
69.9SUCLG1, SUCLA2
7
Hide members
9.6SUCLA2, PC, SUCLG1
8
Hide members
9.6PC, SUCLG1, SUCLA2
9
Hide members
9.4MUT, MMAA, GPD2, HMGCL, MCEE
10
Hide members
9.2MUT, MCEE, SUCLG1, SUCLA2, HMGCL
11
Hide members
9.0MUT, PC, MCEE, SUCLG1, SUCLA2, MTR
128.9MTR, MUT, CD320, MMAA, MMAB, MMACHC
13
Hide members
8.6CD320, PC, MUT, MTR, MMAA, MMAB
14
Hide members
8.1SUCLG1, TCN2, HMGCL, GPD2, MMACHC, MMADHC

Compounds for genes affiliated with Methylmalonic Acidemia

Sources:
45Novoseek, 24HMDB, 11DrugBank, 50PharmGKB
See all sources

Compounds related to Methylmalonic Acidemia according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1l-methylmalonyl-coa4510.3MTR, MUT
2corrinoid4510.2TCN2, MTR
3cobinamide45 2411.2MTR, MMAB
4methylcobalamin45 2411.1MUT, TCN2, MTR
5cobalt45 2410.9MTR, MMACHC, TCN2, MUT
6inosine triphosphate45 2410.9SUCLA2, SUCLG1
7cystathionine459.8MTR, TCN2
8biotin45 11 2411.7TCN2, MUT, PC
9methionine459.7MTR, MUT, MCEE, TCN2
10adenosylcobalamin45 2410.6TCN2, MMAB, MMAA, MCEE, MUT, MTR
11methylmalonic acid45 2410.6TCN2, MUT, MTR, SUCLA2, MCEE
12hydroxocobalamin45 1110.6MMAB, TCN2, MMACHC, MMAA, MUT, MTR
13cyanocobalamin50 11 2411.6TCN2, MMACHC, MMAB, MMAA, MUT, MTR
14vitamin b12459.4TCN2, MMACHC, MMAB, MMAA, MCEE, MUT
15cobalamin45 2410.4MUT, MTR, CD320, MMAA, MMAB, MMACHC

GO Terms for genes affiliated with Methylmalonic Acidemia

Sources:
16Gene Ontology
See all sources

Cellular components related to Methylmalonic Acidemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057439.4HMGCL, PC, SUCLG1, GPD2
2mitochondrial matrixGO:0057598.5MUT, PC, MCEE, MMAA, MMAB, HMGCL
3mitochondrionGO:0057398.3SUCLA2, MMAB, SUCLG1, HMGCL, MUT, PC

Biological processes related to Methylmalonic Acidemia according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1short-chain fatty acid catabolic processGO:01962610.0MCEE, MUT, MMAA
2cobalamin biosynthetic processGO:00923610.0MMACHC, MMAB, MMAA
3succinate metabolic processGO:0061059.9SUCLA2, SUCLG1
4fatty acid beta-oxidationGO:0066359.9MMAA, MCEE, MUT
5succinyl-CoA metabolic processGO:0061049.6SUCLG1, SUCLA2
6cellular lipid metabolic processGO:0442559.4HMGCL, MCEE, GPD2, MMAA, MUT
7cobalamin metabolic processGO:0092359.1MTR, TCN2, MMACHC, MMADHC, MMAB, MMAA
8water-soluble vitamin metabolic processGO:0067678.8MMADHC, MMAB, MMAA, PC, CD320, MUT
9vitamin metabolic processGO:0067668.8MTR, TCN2, MMACHC, MMADHC, MMAB, MMAA
10small molecule metabolic processGO:0442817.4SUCLA2, SUCLG1, TCN2, HMGCL, GPD2, MMACHC

Molecular functions related to Methylmalonic Acidemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1succinate-CoA ligase (ADP-forming) activityGO:0047759.6SUCLG1, SUCLA2
2carbohydrate bindingGO:0302469.3CLEC10A, CLEC2B, CLEC3A
3cobalamin bindingGO:0314199.3MTR, MUT, CD320, MMACHC, TCN2

Products for genes affiliated with Methylmalonic Acidemia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Methylmalonic Acidemia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet