MMA
MCID: MTH008
MIFTS: 79

Methylmalonic Acidemia (MMA) malady

Nephrological diseases, Metabolic diseases categories

Summaries for Methylmalonic Acidemia

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 hypotonia, dystonia/torticollis/writer's cramp/blepharospasms and splenomegaly. 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. Affiliated tissues include kidney, liver and pancreas.

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:63 Methylmalonic acidemia (MMA), also called methylmalonic aciduria, is an autosomal recessivemetabolic... more...

Description from OMIM:46 251100,251110,251000

GeneReviews summary for mma

Aliases & Classifications for Methylmalonic Acidemia

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Sources:
8Disease Ontology, 9diseasecard, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 63 19 42 21 10 60
methylmalonic aciduria cblb type 8 42 22 60
methylmalonic aciduria 8 19 21 44
methylmalonic aciduria, mut type 8 9 46
methylmalonic aciduria cbla type 42 22 60
acidemia, methylmalonic 42 20 22
mma 63 42 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 42
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 48
vitamin b12-unresponsive methylmalonic aciduria type mut- 48
vitamin b12-unresponsive methylmalonic aciduria type mut0 48
vitamin b12-unresponsive methylmalonic acidemia type mut- 48
vitamin b12-unresponsive methylmalonic acidemia 48
complete deficiency of methylmalonyl-coa mutase 48
vitamin b12-unresponsive methylmalonic aciduria 48
partial deficiency of methylmalonyl-coa mutase 48
methylmalonic acidemia, cbla type 8
methylmalonic acidemia, cblb type 8
methylmalonic acidemia cblb type 42
methylmalonic aciduria type cbla 8
methylmalonic aciduria type cblb 8
methylmalonic acidemia cbla type 42
isolated methylmalonic acidemia 21
methylmalonicaciduria 19
mma cbl a type 42


External Ids:

Disease Ontology8 DOID:14749
ICD10 via Orphanet26 E71.1
SNOMED-CT via Orphanet57 237945003, 237946002

Related Diseases for Methylmalonic Acidemia

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Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Methylmalonic Acidemia family:

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

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

(show top 50)    (show all 101)
idRelated DiseaseScoreTop Affiliating Genes
1propionic acidemia31.1HMGCL, MMD, MUT
2homocystinuria30.8MMACHC, MMD, MMADHC, MMAA, MUT, MTR
3megaloblastic anemia30.6MTR, TCN2
4organic acidemia30.4PC
5isovaleric acidemia30.2HMGCL
6hyperhomocysteinemia30.2MMD, MTR
7metabolic acidosis30.2HMGCL, PC
8lactic acidosis30.1PC, SUCLG1
9vitamin b12 deficiency29.9MTR, MUT, MMD, TCN2
10methylmalonic acidemia with homocystinuria10.5
11monomelic amyotrophy10.5
12benign focal amyotrophy10.5
13methylmalonic aciduria and homocystinuria type cbld10.5
14methylmalonic aciduria and homocystinuria type cblf10.4
15sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria10.4
16o'sullivan-mcleod syndrome10.4
17hyperglycemia10.4
18transcobalamin ii deficiency10.3
19methylmalonic aciduria microcephaly cataract10.3
20mitochondrial dna depletion syndrome 510.3
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
32mental retardation, x-linked 310.3
33methylmalonic acidemia without homocystinuria10.3
34methylmalonic aciduria and homocystinuria type cble10.3
35methylmalonic aciduria and homocystinuria type cblg10.3
36retinitis10.3
37suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria10.3
38succinate-coa ligase deficiency10.3
39methylmalonic aciduria, cbld type, variant 210.3
40homocystinuria-megaloblastic anemia, cbl e type10.3
41ichthyosis vulgaris10.1
42diabetic ketoacidosis10.1
43pancytopenia10.1
44neuronitis10.1
45short bowel syndrome10.1
46end stage renal failure10.1
47ecthyma10.1
48hepatitis a10.1
49amblyopia10.1
50diabetes mellitus10.1

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



Diseases related to methylmalonic acidemia

Clinical Features for Methylmalonic Acidemia

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

251100,251110,251000

Clinical synopsis from OMIM:

251000

Symptoms:

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

Drugs & Therapeutics for Methylmalonic Acidemia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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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

Anatomical Context for Methylmalonic Acidemia

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32MalaCards
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MalaCards organs/tissues related to Methylmalonic Acidemia:

32
Kidney, Liver, Pancreas, Brain, Lung, Globus pallidus, Bone, Subthalamic nucleus, Bone marrow, Eye, Heart, Skeletal muscle, Testes

Animal Models for Methylmalonic Acidemia or affiliated genes

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Publications for Methylmalonic Acidemia

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50PubMed
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Articles related to Methylmalonic Acidemia:

(show top 50)    (show all 194)
idTitleAuthorsYear
1
Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect. (23686626)
2013
2
Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L). (24330302)
2013
3
Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type. (23954310)
2013
4
Methylmalonic acidemia and hyperglycemia: an unusual association. (22658817)
2013
5
Novel c.2216T > C (p.I739T) mutation in exon 13 and c.1481T > A (p.L494X) mutation in exon 8 of MUT gene in a female with methylmalonic acidemia. (23479330)
2013
6
Index of suspicion. Case 1: Lymphadenopathy, prolonged hematuria, proteinuria, and weight loss in a teenage boy. Case 2: Red, Swollen, painful eye in a 12-year-old boy with methylmalonic acidemia. Case 3: Ptosis and diplopia after a respiratory infection in a 7-year-old girl. (22301036)
2012
7
Mutation analysis of the methylmalonyl-CoA mutase gene in ten Mexican patients with methylmalonic acidemia]. (23045948)
2012
8
Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type. (23716945)
2012
9
Liver-directed recombinant adeno-associated viral gene delivery rescues a lethal mouse model of methylmalonic acidemia and provides long-term phenotypic correction. (20486773)
2010
10
The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America. (20549364)
2010
11
Optic neuropathy in methylmalonic acidemia: the role of neuroprotection. (20449661)
2010
12
Long-term rescue of a lethal murine model of methylmalonic acidemia using adeno-associated viral gene therapy. (19861951)
2010
13
Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia]. (19573432)
2009
14
Late onset optic neuropathy in methylmalonic and propionic acidemia. (19243738)
2009
15
Metabolic and hemodynamic advantages of an acetate-free citrate dialysate in a uremic case of congenital methylmalonic acidemia. (19577350)
2009
16
Heart failure in a patient with methylmalonic acidemia. (17591451)
2007
17
Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle. (17937813)
2007
18
Novel mutation of methylmalonyl-CoA mutase gene causing the mut0 form of methylmalonic acidemia in a Japanese girl. (17445044)
2007
19
Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresis. (16823967)
2006
20
Three novel and six common mutations in 11 patients with methylmalonic acidemia. (16490061)
2006
21
Current role of liver transplantation for methylmalonic acidemia: a review of the literature. (17096763)
2006
22
Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene. (15643616)
2005
23
Genetic and genomic systems to study methylmalonic acidemia. (16182581)
2005
24
Successful dialysis in a boy with methylmalonic acidemia. (14986089)
2004
25
Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation. (15308131)
2004
26
Methylmalonic acidemia with renal involvement: a case report and review of literature. (18209361)
2001
27
Multi-slice proton MR spectroscopy and diffusion-weighted imaging in methylmalonic acidemia: report of two cases and review of the literature. (11337323)
2001
28
A two-year-old female with methylmalonic acidemia and progressive low density lesions in the basal ganglia on CT scans. (10638145)
1999
29
Plasma amino acid and urine organic acid analyses of methylmalonic acidemia in a Thai infant. (11400752)
1999
30
Methylmalonic acidemia: brain lesions in a case of vitamin B12 non-responsive (mut0) type. (8521625)
1995
31
Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia. (7996362)
1994
32
A case of fulminant ecthyma gangrenosum associated with Pseudomonas aeruginosa infection in a patient with methylmalonic acidemia. (8191230)
1994
33
Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus. (7913714)
1994
34
Emergency presentations of patients with methylmalonic acidemia, propionic acidemia and branched chain amino acidemia (MSUD). (7726386)
1994
35
Methylmalonic Acidemia (20301409)
1993
36
Quantification of carnitine and specific acylcarnitines by high-performance liquid chromatography: application to normal human urine and urine from patients with methylmalonic aciduria, isovaleric acidemia or medium-chain acyl-CoA dehydrogenase deficiency. (8491807)
1993
37
CT and MR studies of methylmalonic acidemia. (2058484)
1991
38
Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning. (1977311)
1990
39
Cutaneous manifestations of methylmalonic acidemia. (2372220)
1990
40
Identification of methyl-branched chain dicarboxylic acids in amniotic fluid and urine in propionic and methylmalonic acidemia. (6514446)
1984
41
The stable isotope dilution method for measurement of methylmalonic acid: a highly accurate approach to the prenatal diagnosis of methylmalonic acidemia. (6752856)
1982
42
Occurrence of hyperammonemia in the course of 17 cases of methylmalonic acidemia. (7252694)
1981
43
Improved prenatal diagnosis of methylmalonic acidemia: mass fragmentography of methylmalonic acid in amniotic fluid and maternal urine. (7318836)
1981
44
Isotope dilution analysis of methylcitric acid in amniotic fluid for the prenatal diagnosis of propionic and methylmalonic acidemia. (7002368)
1980
45
Methylmalonic acidemia. (41966)
1979
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
Studies of methylmalonyl-coenzyme A carbonylmutase activity in methylmalonic acidemia. II. In vitro binding kinetics with adenosylcobalamin. (11786)
1976
48
Microdetermination of methylmalonic acid and other short chain dicarboxylic acids by gas chromatography: use in prenatal diagnosis of methylmalonic acidemia and in studies of isovaleric acidemia. (1261058)
1976
49
Abnormal patterns of urine and serum amino acids in methylmalonic acidemia. (5422739)
1970
50
Congenital methylmalonic acidemia: enzymatic evidence for two forms of the disease. (5257962)
1969

Genetic Variations for Methylmalonic Acidemia

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Methylmalonic Acidemia:

62 (show all 84)
id Symbol AA change Variation ID 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

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
29KEGG, 53Reactome, 37NCBI BioSystems Database, 49PharmGKB, 12EMD Millipore
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Pathways related to Methylmalonic Acidemia according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Methylmalonic Acidemia

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44Novoseek, 24HMDB, 11DrugBank, 49PharmGKB
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Compounds related to Methylmalonic Acidemia according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1l-methylmalonyl-coa4410.3MTR, MUT
2corrinoid4410.2TCN2, MTR
3cobinamide44 2411.2MMAB, MTR
4methylcobalamin44 2411.1MTR, MUT, TCN2
5inosine triphosphate44 2410.9SUCLA2, SUCLG1
6cobalt44 2410.8MTR, MUT, MMACHC, TCN2
7cystathionine449.8TCN2, MTR
8biotin44 11 2411.7TCN2, PC, MUT
9methionine449.7MTR, MUT, MCEE, TCN2
10adenosylcobalamin44 2410.6MTR, MUT, MCEE, MMAA, MMAB, TCN2
11methylmalonic acid44 2410.6MTR, MUT, MCEE, TCN2, SUCLA2
12cyanocobalamin49 11 2411.6MMACHC, MMAB, MMAA, MUT, MTR, TCN2
13hydroxocobalamin44 1110.6MTR, MUT, MMAA, MMAB, MMACHC, TCN2
14vitamin b12449.4MTR, MUT, MCEE, MMAA, MMAB, MMACHC
15cobalamin44 2410.4TCN2, MTR, MUT, CD320, MMAA, MMAB

GO Terms for genes affiliated with Methylmalonic Acidemia

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16Gene Ontology
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Cellular components related to Methylmalonic Acidemia according to GeneCards/GeneDecks:

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

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

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

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:0302469.3CLEC3A, CLEC2B, CLEC10A
3cobalamin bindingGO:0314199.3TCN2, MMACHC, CD320, MUT, MTR

Products for genes affiliated with Methylmalonic Acidemia

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Methylmalonic Acidemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet