MMA
MCID: MTH008
MIFTS: 77

Methylmalonic Acidemia (MMA) malady

Genetic diseases, Rare diseases, Nephrological diseases categories

Summaries for Methylmalonic Acidemia

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9Disease Ontology, 22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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.Ā mutations in the mut, mmaa, mmab, mmadhc, and mcee genes cause methylmalonic acidemia. it is inherited in an autosomal recessiveĀ fashion. last updated: 10/3/2011

MalaCards: Methylmalonic Acidemia, also known as methylmalonic aciduria, mut type, is related to megaloblastic anemia 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 Vitamin digestion and absorption and Valproic Acid Pathway, Pharmacodynamics. The compounds R-Methylmalonyl-CoA and l-methylmalonyl-coa have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and lung, and related mouse phenotype liver/biliary system.

Disease Ontology:9 An organic acidemia that involves an accumulation of methylmalonic acid in the blood.

Genetics Home Reference:22 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:66 Methylmalonic acidemia (MMA), also called methylmalonic aciduria, is an autosomal recessivemetabolic... more...

Description from OMIM:48 251110,251100,251000

GeneReviews summary for mma

Aliases & Classifications for Methylmalonic Acidemia

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Sources:
9Disease Ontology, 66Wikipedia, 20GeneReviews, 44NIH Rare Diseases, 22Genetics Home Reference, 11DISEASES, 63UMLS, 23GTR, 10diseasecard, 48OMIM, 46Novoseek, 21GeneTests, 50Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases


Characteristics (Orphanet epidemiological data):

50
vitamin b12-unresponsive methylmalonic aciduria:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Before age 5
vitamin b12-unresponsive methylmalonic aciduria 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 9 66 20 44 22 11 63
methylmalonic aciduria, mut type 9 10 23 48
methylmalonic aciduria 9 20 22 46
methylmalonic aciduria cbla type 44 23 63
methylmalonic aciduria cblb type 9 44 63
acidemia, methylmalonic 44 21 23
mma 66 44 22
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 9 23
methylmalonic aciduria type cblb 9 23
methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cbla complementation type 44
methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb type 9
methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cbla type 9
methylmalonicaciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin--cbl a 9
methylmalonicaciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin--cbl b 9
methylmalonicaciduria due to methylmalonic coa mutase deficiency 9
vitamin b12-unresponsive methylmalonic aciduria type mut0 50
vitamin b12-unresponsive methylmalonic aciduria type mut- 50
vitamin b12-unresponsive methylmalonic acidemia type mut- 50
vitamin b12-unresponsive methylmalonic acidemia type mut0 50
complete deficiency of methylmalonyl-coa mutase 50
vitamin b12-unresponsive methylmalonic aciduria 50
vitamin b12-unresponsive methylmalonic acidemia 50
partial deficiency of methylmalonyl-coa mutase 50
methylmalonic acidemia, cblb type 9
methylmalonic acidemia, cbla type 9
methylmalonic acidemia cblb type 44
methylmalonic aciduria type cbla 9
methylmalonic acidemia cbla type 44
methylmalonic aciduria mut type 9
isolated methylmalonic acidemia 22
methylmalonicaciduria 20
mma cbl a type 44


External Ids:

Disease Ontology9 DOID:14749
ICD10 via Orphanet27 E71.1
SNOMED-CT via Orphanet60 237945003, 237946002

Related Diseases for Methylmalonic Acidemia

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Sources:
18GeneCards, 19GeneDecks
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 108)
idRelated DiseaseScoreTop Affiliating Genes
1megaloblastic anemia30.8TCN2, MTR
2homocystinuria30.8HMGCL, MTR, TCN2, MMACHC, MMD, MMAA
3propionic acidemia30.7MUT, MMD, PCCA, HMGCL
4homocysteinemia30.4MTR
5neural tube defects30.3MTR, TCN2
6maple syrup urine disease30.3MMD, HMGCL
7lactic acidosis30.3PC, SUCLG1
8vitamin b12 deficiency29.9MUT, MMD, CBL, TCN2, MTR
9methylmalonic acidemia and homocystinuria cblc type10.6
10monomelic amyotrophy10.5
11benign focal amyotrophy10.5
12methylmalonic aciduria and homocystinuria type cbld10.5
13methylmalonic aciduria and homocystinuria type cblf10.5
14methylmalonic acidemia with homocystinuria10.5
15sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria10.4
16o'sullivan-mcleod syndrome10.4
17hyperglycemia10.4
18transcobalamin ii deficiency10.4
19methylmalonic aciduria microcephaly cataract10.4
20cblf10.4
21mitochondrial dna depletion syndrome 510.4
22methylmalonic aciduria and homocystinuria type cblc10.3
23renal tubular acidosis10.3
24dystonia10.3
25mmaa-related methylmalonic acidemia10.3
26mmab-related methylmalonic acidemia10.3
27mut-related methylmalonic acidemia10.3
28mcee-related methylmalonic acidemia10.3
29mmadhc-related methylmalonic acidemia10.3
30methylmalonyl-coa epimerase deficiency10.3
31homocystinuria, cbld type, variant 110.3
32methylmalonic aciduria, vitamin b12-responsive10.3
33methylmalonic aciduria due to transcobalamin receptor defect10.3
34mental retardation, x-linked 310.3
35methylmalonic acidemia without homocystinuria10.3
36methylmalonic aciduria and homocystinuria type cblg10.3
37methylmalonic aciduria and homocystinuria type cble10.3
38retinitis10.3
39encephalomyopathy10.3
40suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria10.3
41succinate-coa ligase deficiency10.3
42methylmalonic aciduria, cbld type, variant 210.3
43homocystinuria-megaloblastic anemia, cbl e type10.3
44mitochondrial dna depletion syndrome10.3
45diabetic ketoacidosis10.2
46ichthyosis vulgaris10.2
47generalized dystonia10.2
48hyperhomocysteinemia10.2
49short bowel syndrome10.2
50end stage renal failure10.2

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



Diseases related to methylmalonic acidemia

Symptoms for Methylmalonic Acidemia

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

251000

Clinical features from OMIM:

251110,251100,251000

Symptoms:

50 (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
  • thrombocytopenia/thrombopenia
  • intracranial/cerebral/meningeal hemorrhage
  • polynuclear cells/neutrophils anomalies/neutropenia
  • anaemia
  • chorea/athetosis/choreoathetosis/choreic syndrome
  • movement disorder
  • renal failure
  • cardiomyopathy/hypertrophic/dilated
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hepatomegaly/liver enlargement (excluding storage disease)
  • acute abdominal pain/colic
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • pancreatitis
  • 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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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Genetic tests related to Methylmalonic Acidemia:

id Genetic test Affiliating Genes
1 Methylmalonic Acidemia21 23
2 Methylmalonic Aciduria Cbla Type23
3 Methylmalonic Aciduria Cblb Type23
4 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency23
5 Methylmalonic Aciduria, Mut(-) Type23

Anatomical Context for Methylmalonic Acidemia

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34MalaCards
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MalaCards organs/tissues related to Methylmalonic Acidemia:

34
Kidney, Liver, Lung, Brain, Globus pallidus, Bone marrow, Subthalamic nucleus, Eye, Bone, Heart, Skeletal muscle

Animal Models for Methylmalonic Acidemia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Methylmalonic Acidemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.7HMGCL, PCCA, CBL, MUT, GPD2

Publications for Methylmalonic Acidemia

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Sources:
53PubMed
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Articles related to Methylmalonic Acidemia:

(show top 50)    (show all 185)
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
Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type. (23580368)
2013
4
Methylmalonic acidemia and kidney transplantation. (23793882)
2013
5
Pregnancy in a methylmalonic acidemia patient with kidney transplantation: a case report. (23711287)
2013
6
Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type. (23954310)
2013
7
Renal growth in isolated methylmalonic acidemia. (23639900)
2013
8
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia. (23898205)
2013
9
Gene therapy in a murine model of methylmalonic acidemia using rAAV9-mediated gene delivery. (21776024)
2012
10
Pre-clinical efficacy and dosing of an AAV8 vector expressing human methylmalonyl-CoA mutase in a murine model of methylmalonic acidemia (MMA). (23046887)
2012
11
Methylmalonic acidemia mimicking diabetic ketoacidosis in an infant. (21545677)
2012
12
Subacute bilateral visual loss in methylmalonic acidemia. (21873889)
2011
13
Growth hormone therapy in neonatal patients with methylmalonic acidemia. (19762313)
2009
14
Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia]. (19573432)
2009
15
Brain damage by mild metabolic derangements in methylmalonic acidemia. (18940555)
2008
16
Methylmalonic acidemia: brain imaging findings in 52 children and a review of the literature. (18636250)
2008
17
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
18
Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia. (17075691)
2007
19
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. (16281286)
2006
20
Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresis. (16823967)
2006
21
Imaging of the brain, including diffusion-weighted imaging in methylmalonic acidemia. (15205843)
2004
22
Successful dialysis in a boy with methylmalonic acidemia. (14986089)
2004
23
Magnetic resonance imaging and spectroscopy in a patient with treated methylmalonic acidemia. (12886142)
2003
24
Metabolic stroke in methylmalonic acidemia five years after liver transplantation. (11865284)
2002
25
N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients. (11528502)
2001
26
A two-year-old female with methylmalonic acidemia and progressive low density lesions in the basal ganglia on CT scans. (10638145)
1999
27
Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations. (8990001)
1997
28
Effective immunoglobulin therapy for brief tonic seizures in methylmalonic acidemia. (9408601)
1997
29
Methylmalonic acidemia: brain lesions in a case of vitamin B12 non-responsive (mut0) type. (8521625)
1995
30
Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia. (7996362)
1994
31
A case of fulminant ecthyma gangrenosum associated with Pseudomonas aeruginosa infection in a patient with methylmalonic acidemia. (8191230)
1994
32
Methylmalonic Acidemia (20301409)
1993
33
Methylmalonic acidemia with a severe chemical but benign clinical phenotype. (8441101)
1993
34
Tubulointerstitial nephritis in methylmalonic acidemia. (8439488)
1993
35
Cobalamin deficiency associated with methylmalonic acidemia in a cat. (1351478)
1992
36
Misidentification of propionic acid as ethylene glycol in a patient with methylmalonic acidemia. (1538288)
1992
37
Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia. (1970180)
1990
38
Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia. (1968706)
1990
39
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
40
Propionate production in methylmalonic acidemia. (2572791)
1989
41
Proximal renal tubular acidosis in methylmalonic acidemia. (4020528)
1985
42
Comparison of cytosolic and mitochondrial enzyme alterations in the livers of propionic or methylmalonic acidemia: a reduction of cytochrome oxidase activity. (6287671)
1982
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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Methylmalonic Acidemia:

65 (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

Clinvar genetic disease variations for Methylmalonic Acidemia:

1
id Gene Name Type Significance SNP ID Assembly Location
1MMABNM_052845.3(MMAB): c.556C> T (p.Arg186Trp)single nucleotide variantPathogenicrs28941784GRCh37Chr 12, 109998873: 109998873
2MMAANM_172250.2(MMAA): c.283C> T (p.Gln95Ter)single nucleotide variantPathogenicrs104893846GRCh37Chr 4, 146560574: 146560574
3MMAANM_172250.2(MMAA): c.620A> G (p.Tyr207Cys)single nucleotide variantPathogenicrs104893849GRCh37Chr 4, 146567195: 146567195
4MMAANM_172250.2(MMAA): c.433C> T (p.Arg145Ter)single nucleotide variantPathogenicrs104893851GRCh37Chr 4, 146560724: 146560724

Expression for genes affiliated with Methylmalonic Acidemia

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2BioGPS, 16Gene 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:
51PathCards, 31KEGG, 52PharmGKB, 39NCBI BioSystems Database, 56Reactome
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Pathways related to Methylmalonic Acidemia according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0TCN2, MMACHC
2
Show member pathways
aspartate biosynthesis39
9.8SUCLA2, SUCLG1
3
Show member pathways
L-cysteine degradation I39
2-oxoisovalerate decarboxylation to isobutanoyl-CoA39
cysteine biosynthesis III (mammalia)39
2-oxobutanoate degradation I39
9.6PCCA, MUT, MCEE
49.6MCEE, MUT, PCCA
5
Show member pathways
TCA cycle39
pyruvate decarboxylation to acetyl CoA39
NAD phosphorylation and dephosphorylation39
TCA Cycle39
conversion of glucose to acetyl CoA and entry into the TCA cycle39
9.4PC, SUCLA2, SUCLG1
6
Show member pathways
8.8GPD2, MCEE, MUT, MMAA, PCCA, HMGCL
7
Show member pathways
beta-alanine degradation I39
valine degradation I39
pyruvate fermentation to lactate39
isoleucine degradation I39
8.6SUCLG1, SUCLA2, MCEE, MUT, PCCA, HMGCL
8
Show member pathways
L-serine degradation39
pentose phosphate pathway (oxidative branch)39
formaldehyde oxidation II (glutathione-dependent)39
8.3SUCLG1, SUCLA2, MCEE, MUT, MTR, PC
9
Show member pathways
flavin biosynthesis IV (mammalian)39
molybdenum cofactor biosynthesis39
coenzyme A biosynthesis39
thiamin salvage III39
alanine biosynthesis III39
thio-molybdenum cofactor biosynthesis39
biotin-carboxyl carrier protein assembly39
7.8CD320, MUT, MMADHC, MMAB, MMAA, MMACHC
107.3MUT, MMADHC, MMAB, MMAA, MMACHC, CBL
11
Show member pathways
6.3MMADHC, MUT, MCEE, SUCLA2, SUCLG1, GPD2

Compounds for genes affiliated with Methylmalonic Acidemia

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Sources:
25HMDB, 46Novoseek, 30IUPHAR, 12DrugBank, 52PharmGKB
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Compounds related to Methylmalonic Acidemia according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1R-Methylmalonyl-CoA2510.4MUT, MCEE
2l-methylmalonyl-coa4610.4MTR, MUT
3Cob(I)alamin2510.3MMAB, MTR
4cobinamide46 2511.3MTR, MMAB
5corrinoid4610.3MTR, TCN2
6cystathionine4610.2TCN2, MTR
7methylcobalamin46 2511.2MUT, TCN2, MTR
8Itaconic acid2510.1SUCLG1, SUCLA2
9Itaconyl-CoA2510.1SUCLA2, SUCLG1
10Methylmalonyl-CoA2510.1PCCA, MCEE
11S-Methylmalonyl-CoA2510.1PCCA, MCEE
12vitamin b64610.0MTR, TCN2
13folate4610.0MTR, TCN2, MUT
14IDP259.9SUCLA2, SUCLG1
15Succinyl-CoA259.9MUT, SUCLA2, SUCLG1
16cobalt46 2510.9MTR, TCN2, MMACHC, MUT
17propionyl coa469.9PCCA, PC
18inosine triphosphate46 2510.9SUCLG1, SUCLA2
19methionine469.9MTR, TCN2, MUT, MCEE
20homocysteine46 2510.8MTR, TCN2, CBL
21succinic acid30 25 1211.8SUCLA2, SUCLG1
22adenosylcobalamin46 2510.6MMAA, MMAB, MUT, MCEE, TCN2, MTR
23methylmalonic acid46 2510.6SUCLA2, MCEE, MUT, TCN2, MTR
24cyanocobalamin52 25 1211.6MUT, MTR, TCN2, MMACHC, MMAA, MMAB
25hydroxocobalamin46 1210.5MTR, TCN2, MMACHC, MMAA, MMAB, MUT
26biotin46 25 1211.5MUT, TCN2, PC, PCCA
27acetyl-coa46 2510.5HMGCL, PC, ACSF3
28propionate469.5PCCA, MUT
29pyruvate469.5GPD2, MTR, PC
30Phosphate259.1SUCLG1, SUCLA2, PC, PCCA
31vitamin b12468.9MTR, TCN2, CBL, MMACHC, MMAA, MMAB
32cobalamin46 259.8CD320, MUT, MMAB, MMAA, MMACHC, CBL

GO Terms for genes affiliated with Methylmalonic Acidemia

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Sources:
17Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057439.2HMGCL, PC, SUCLG1, GPD2
2mitochondrionGO:0057397.8SUCLG1, SUCLA2, MUT, MMADHC, MMACHC, ACSF3
3mitochondrial matrixGO:0057597.7HMGCL, SUCLG1, SUCLA2, MCEE, MUT, MMAB

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1cobalamin biosynthetic processGO:0092369.9MMACHC, MMAA, MMAB
2succinyl-CoA metabolic processGO:0061049.8SUCLA2, SUCLG1
3tricarboxylic acid cycleGO:0060999.8SUCLA2, SUCLG1
4succinate metabolic processGO:0061059.7SUCLG1, SUCLA2
5short-chain fatty acid catabolic processGO:0196269.5MCEE, MUT, MMAA, PCCA
6fatty acid beta-oxidationGO:0066359.4MCEE, MUT, MMAA, PCCA
7biotin metabolic processGO:0067689.3PCCA, PC
8cobalamin metabolic processGO:0092358.9MUT, MMADHC, MMAB, MMAA, MMACHC, TCN2
9cellular lipid metabolic processGO:0442558.9GPD2, MCEE, MUT, MMAA, PCCA, HMGCL
10water-soluble vitamin metabolic processGO:0067678.0MMACHC, TCN2, MTR, PC, PCCA, CD320
11vitamin metabolic processGO:0067668.0MUT, MMADHC, MMAB, MMAA, MMACHC, TCN2
12small molecule metabolic processGO:0442816.5MMAB, MMAA, MMACHC, TCN2, MTR, PC

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

idNameGO IDScoreTop Affiliating Genes
1succinate-CoA ligase (ADP-forming) activityGO:0047759.8SUCLG1, SUCLA2
2biotin bindingGO:0093749.5PCCA, PC
3cobalamin bindingGO:0314199.4CD320, MTR, TCN2, MMACHC, MUT
4biotin carboxylase activityGO:0040759.3PC, PCCA
5metal ion bindingGO:0468728.3HMGCL, PCCA, PC, TCN2, MUT, MCEE

Products for genes affiliated with Methylmalonic Acidemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Methylmalonic Acidemia

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet