MCID: MTH008
MIFTS: 63

Methylmalonic Acidemia malady

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

Aliases & Classifications for Methylmalonic Acidemia

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Methylmalonic Acidemia, Aliases & Descriptions:

Name: Methylmalonic Acidemia 9 63 19 41 21 11 60
Methylmalonic Aciduria Cblb Type 9 41 22 60
Methylmalonic Aciduria 9 19 21 43
Methylmalonic Aciduria Cbla Type 41 22 60
Acidemia, Methylmalonic 41 20 22
Mma 63 41 21
Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 9 60
Vitamin B12-Unresponsive Methylmalonic Aciduria 41 47
Vitamin B12-Unresponsive Methylmalonic Acidemia 41 47
Vitamin B12-Responsive Methylmalonic Acidemia 41 47
Vitamin B12-Responsive Methylmalonic Aciduria 41 47
Methylmalonic Aciduria, Mut Type 9 10
Methylmalonic Aciduria Mut Type 9 22
Adenosylcobalamin Deficiency 41 47
Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cbla Complementation Type 41
 
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 B 9
Methylmalonicaciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin--Cbl a 9
Methylmalonicaciduria Due to Methylmalonic Coa Mutase Deficiency 9
Adenosylcobalamin Synthesis Defect 60
Methylmalonic Acidemia, Cblb Type 9
Methylmalonic Acidemia, Cbla Type 9
Methylmalonic Aciduria Type Cbla 9
Methylmalonic Acidemia Cbla Type 41
Methylmalonic Acidemia Cblb Type 41
Methylmalonic Aciduria Type Cblb 9
Isolated Methylmalonic Acidemia 21
Methylmalonicaciduria 19
Mma Cbl a Type 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
vitamin b12-unresponsive methylmalonic aciduria:
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy,Neonatal; Age of death: early childhood
vitamin b12-responsive methylmalonic acidemia:
Inheritance: Autosomal recessive; Age of onset: Childhood


External Ids:

Disease Ontology9 DOID:14749
Orphanet47 27, 28
ICD10 via Orphanet26 E71.1

Summaries for Methylmalonic Acidemia

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NIH Rare Diseases:41 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 cblb type, is related to megaloblastic anemia and homocysteinemia, and has symptoms including dehydration, nausea and vomiting and respiratory insufficiency. An important gene associated with Methylmalonic Acidemia is MMAB (methylmalonic aciduria (cobalamin deficiency) cblB type), 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 pancreas, 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: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...

GeneReviews summary for mma

Related Diseases for Methylmalonic Acidemia

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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 Suite gene sharing:

(show top 50)    (show all 113)
idRelated DiseaseScoreTop Affiliating Genes
1megaloblastic anemia31.2TCN2, MTR
2homocysteinemia30.9MTR
3neural tube defects30.6MTR, TCN2
4homocystinuria30.5HMGCL, MTR, TCN2, MMACHC, MMD, MMAA
5lactic acidosis30.4PC, SUCLG1
6vitamin b12 deficiency29.7MUT, MMD, CBL, TCN2, MTR
7combined malonic and methylmalonic aciduria10.8
8methylmalonic acidemia with homocystinuria10.6
9methylmalonic aciduria and homocystinuria, cblf type10.6
10methylmalonic aciduria and homocystinuria, cblc type10.6
11encephalomyopathy10.5
12monomelic amyotrophy10.5
13sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria10.5
14methylmalonic acidemia due to methylmalonyl-coa epimerase deficiency10.5
15transcobalamin ii deficiency10.5
16methylmalonic aciduria microcephaly cataract10.5
17o'sullivan-mcleod syndrome10.5
18mental retardation, x-linked 310.4
19hyperglycemia10.4
20mmaa-related methylmalonic acidemia10.4
21mmab-related methylmalonic acidemia10.4
22mut-related methylmalonic acidemia10.4
23mcee-related methylmalonic acidemia10.4
24mmadhc-related methylmalonic acidemia10.4
25methylmalonic acidemia with homocystinuria, type cblj10.4
26methylmalonic acidemia with homocystinuria, type cblx10.4
27vitamin b12-unresponsive methylmalonic acidemia type mut010.4
28combined malonic and methylmalonic acidemia10.4
29vitamin b12-responsive methylmalonic acidemia, type cbldv210.4
30vitamin b12-unresponsive methylmalonic acidemia type mut-10.4
31vitamin b12-responsive methylmalonic acidemia type cblb10.4
32methylmalonic aciduria and homocystinuria type cblg10.4
33methylmalonic aciduria and homocystinuria type cble10.4
34suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria10.4
35fatal infantile lactic acidosis with methylmalonic aciduria10.4
36homocystinuria without methylmalonic aciduria10.4
37organic acidemia10.4PC
38multiple carboxylase deficiency10.4PC
39methylmalonic aciduria due to transcobalamin receptor defect10.3
40cholestasis, progressive familial intrahepatic 110.3
41renal tubular acidosis10.3
42diabetic ketoacidosis10.3
43dystonia10.3
44methylmalonicacidemia with homocystinuria cbl d10.3
45hepatoblastoma10.3
46retinitis10.3
47succinate-coa ligase deficiency10.3
48disorders of intracellular cobalamin metabolism10.3MTR, MMACHC, MMADHC
49maple syrup urine disease, type ii10.2MMD, HMGCL
50ichthyosis vulgaris10.2

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



Diseases related to methylmalonic acidemia

Symptoms for Methylmalonic Acidemia

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Symptoms:

 47 (show all 26)
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • obnubilation/coma/lethargia/desorientation
  • autosomal recessive inheritance
  • early death/lethality
  • dehydration/hydroelectrolytic loss
  • hepatomegaly/liver enlargement (excluding storage disease)
  • hypotonia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • leukopenia/hypoleukocytosis
  • thrombocytopenia/thrombopenia
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • pancreatitis
  • cardiomyopathy/hypertrophic/dilated
  • renal tubular defect/tubulopathy
  • interstitial nephropathy
  • renal failure
  • ataxia/incoordination/trouble of the equilibrium
  • chorea/athetosis/choreoathetosis/choreic syndrome
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • seizures/epilepsy/absences/spasms/status epilepticus
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • anaemia
  • hyperammonemia
  • failure to thrive/difficulties for feeding in infancy/growth delay

HPO human phenotypes related to Methylmalonic Acidemia:

(show all 24)
id Description Frequency HPO Source Accession
1 dehydration hallmark (90%) HP:0001944
2 nausea and vomiting hallmark (90%) HP:0002017
3 respiratory insufficiency hallmark (90%) HP:0002093
4 reduced consciousness/confusion hallmark (90%) HP:0004372
5 hepatomegaly hallmark (90%) HP:0002240
6 muscular hypotonia typical (50%) HP:0001252
7 thrombocytopenia typical (50%) HP:0001873
8 leukopenia typical (50%) HP:0001882
9 hepatomegaly typical (50%) HP:0002240
10 cognitive impairment typical (50%) HP:0100543
11 hyperammonemia typical (50%) HP:0001987
12 renal insufficiency occasional (7.5%) HP:0000083
13 abnormality of the renal tubule occasional (7.5%) HP:0000091
14 optic atrophy occasional (7.5%) HP:0000648
15 seizures occasional (7.5%) HP:0001250
16 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
17 pancreatitis occasional (7.5%) HP:0001733
18 anemia occasional (7.5%) HP:0001903
19 hyperammonemia occasional (7.5%) HP:0001987
20 chorea occasional (7.5%) HP:0002072
21 neurological speech impairment occasional (7.5%) HP:0002167
22 incoordination occasional (7.5%) HP:0002311
23 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
24 abnormality of immune system physiology occasional (7.5%) HP:0010978

Drugs & Therapeutics for Methylmalonic Acidemia

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Drug clinical trials:

Search ClinicalTrials for Methylmalonic Acidemia

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 Acidemia20 22
2 Methylmalonic Aciduria Cbla Type22
3 Methylmalonic Aciduria Cblb Type22
4 Methylmalonic Aciduria, Mut(-) Type22

Anatomical Context for Methylmalonic Acidemia

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MalaCards organs/tissues related to Methylmalonic Acidemia:

31
Kidney, Liver, Pancreas, Brain, Lung, Globus pallidus, Bone marrow, Eye, Bone, Heart, Skeletal muscle, Skin, Subthalamic nucleus

Animal Models for Methylmalonic Acidemia or affiliated genes

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MGI Mouse Phenotypes related to Methylmalonic Acidemia:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.7HMGCL, PCCA, CBL, MUT, GPD2

Publications for Methylmalonic Acidemia

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Articles related to Methylmalonic Acidemia:

(show top 50)    (show all 199)
idTitleAuthorsYear
1
Treatment of Methylmalonic Acidemia by Liver or Combined Liver-Kidney Transplantation. (25771389)
2015
2
Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review. (25567501)
2015
3
Methylmalonic acidemia mimicking diabetic ketoacidosis and septic shock in infants. (25810618)
2015
4
MicroRNA-9 regulates neural apoptosis in methylmalonic acidemia via targeting BCL2L11. (24798023)
2014
5
Skin manifestation of methylmalonic acidemia; a rare case. (25058035)
2014
6
MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia. (25190203)
2014
7
Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect. (23686626)
2013
8
Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L). (24330302)
2013
9
Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type. (23580368)
2013
10
Methylmalonic acidemia and kidney transplantation. (23793882)
2013
11
Pregnancy in a methylmalonic acidemia patient with kidney transplantation: a case report. (23711287)
2013
12
Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type. (23954310)
2013
13
Renal growth in isolated methylmalonic acidemia. (23639900)
2013
14
Gene therapy in a murine model of methylmalonic acidemia using rAAV9-mediated gene delivery. (21776024)
2012
15
Pre-clinical efficacy and dosing of an AAV8 vector expressing human methylmalonyl-CoA mutase in a murine model of methylmalonic acidemia (MMA). (23046887)
2012
16
Subacute bilateral visual loss in methylmalonic acidemia. (21873889)
2011
17
Growth hormone therapy in neonatal patients with methylmalonic acidemia. (19762313)
2009
18
Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia]. (19573432)
2009
19
Brain damage by mild metabolic derangements in methylmalonic acidemia. (18940555)
2008
20
Methylmalonic acidemia: brain imaging findings in 52 children and a review of the literature. (18636250)
2008
21
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
22
Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia. (17075691)
2007
23
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. (16281286)
2006
24
Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresis. (16823967)
2006
25
Imaging of the brain, including diffusion-weighted imaging in methylmalonic acidemia. (15205843)
2004
26
Successful dialysis in a boy with methylmalonic acidemia. (14986089)
2004
27
Magnetic resonance imaging and spectroscopy in a patient with treated methylmalonic acidemia. (12886142)
2003
28
Metabolic stroke in methylmalonic acidemia five years after liver transplantation. (11865284)
2002
29
A two-year-old female with methylmalonic acidemia and progressive low density lesions in the basal ganglia on CT scans. (10638145)
1999
30
Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations. (8990001)
1997
31
Effective immunoglobulin therapy for brief tonic seizures in methylmalonic acidemia. (9408601)
1997
32
Methylmalonic acidemia: brain lesions in a case of vitamin B12 non-responsive (mut0) type. (8521625)
1995
33
Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia. (7996362)
1994
34
A case of fulminant ecthyma gangrenosum associated with Pseudomonas aeruginosa infection in a patient with methylmalonic acidemia. (8191230)
1994
35
Methylmalonic Acidemia (20301409)
1993
36
Methylmalonic acidemia with a severe chemical but benign clinical phenotype. (8441101)
1993
37
Cobalamin deficiency associated with methylmalonic acidemia in a cat. (1351478)
1992
38
Misidentification of propionic acid as ethylene glycol in a patient with methylmalonic acidemia. (1538288)
1992
39
Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia. (1970180)
1990
40
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
41
Propionate production in methylmalonic acidemia. (2572791)
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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1MMABNM_052845.3(MMAB): c.556C> T (p.Arg186Trp)single nucleotide variantPathogenicrs28941784GRCh37Chr 12, 109998873: 109998873
2MMABMMAB, IVS3, G-A, -1single nucleotide variantPathogenic
3MMABMMAB, 5-BP DEL, NT572deletionPathogenic
4MMAAMMAA, 4-BP DEL, 592ACTGdeletionPathogenic
5MMAAMMAA, 8-BP INS, NT260insertionPathogenic
6MMAANM_172250.2(MMAA): c.283C> T (p.Gln95Ter)single nucleotide variantPathogenicrs104893846GRCh37Chr 4, 146560574: 146560574
7MMAANM_172250.2(MMAA): c.620A> G (p.Tyr207Cys)single nucleotide variantPathogenicrs104893849GRCh37Chr 4, 146567195: 146567195
8MMAANM_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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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 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0TCN2, MMACHC
2
Show member pathways
aspartate biosynthesis36
9.8SUCLA2, SUCLG1
3
Show member pathways
L-cysteine degradation I36
2-oxoisovalerate decarboxylation to isobutanoyl-CoA36
cysteine biosynthesis III (mammalia)36
2-oxobutanoate degradation I36
9.5PCCA, MUT, MCEE
49.5MCEE, MUT, PCCA
5
Show member pathways
TCA cycle36
pyruvate decarboxylation to acetyl CoA36
NAD phosphorylation and dephosphorylation36
TCA Cycle36
conversion of glucose to acetyl CoA and entry into the TCA cycle36
9.4PC, SUCLA2, SUCLG1
6
Show member pathways
8.7GPD2, MCEE, MUT, MMAA, PCCA, HMGCL
7
Show member pathways
beta-alanine degradation I36
valine degradation I36
pyruvate fermentation to lactate36
isoleucine degradation I36
8.5SUCLG1, SUCLA2, MCEE, MUT, PCCA, HMGCL
8
Show member pathways
L-serine degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
8.2SUCLG1, SUCLA2, MCEE, MUT, MTR, PC
9
Show member pathways
flavin biosynthesis IV (mammalian)36
molybdenum cofactor biosynthesis36
coenzyme A biosynthesis36
thiamin salvage III36
alanine biosynthesis III36
thio-molybdenum cofactor biosynthesis36
biotin-carboxyl carrier protein assembly36
7.8CD320, MUT, MMADHC, MMAB, MMAA, MMACHC
107.4MUT, 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:
24HMDB, 43Novoseek, 28IUPHAR, 12DrugBank, 49PharmGKB
See all sources

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

(show all 32)
idCompoundScoreTop Affiliating Genes
1R-Methylmalonyl-CoA2410.4MUT, MCEE
2l-methylmalonyl-coa4310.4MTR, MUT
3Cob(I)alamin2410.4MMAB, MTR
4cobinamide43 2411.3MTR, MMAB
5corrinoid4310.3MTR, TCN2
6cystathionine4310.2TCN2, MTR
7methylcobalamin43 2411.2MUT, TCN2, MTR
8Itaconic acid2410.1SUCLG1, SUCLA2
9Itaconyl-CoA2410.1SUCLA2, SUCLG1
10Methylmalonyl-CoA2410.1PCCA, MCEE
11S-Methylmalonyl-CoA2410.1PCCA, MCEE
12vitamin b64310.0MTR, TCN2
13folate4310.0MTR, TCN2, MUT
14IDP249.9SUCLA2, SUCLG1
15Succinyl-CoA249.9MUT, SUCLA2, SUCLG1
16cobalt43 2410.9MTR, TCN2, MMACHC, MUT
17propionyl coa439.9PCCA, PC
18inosine triphosphate43 2410.9SUCLG1, SUCLA2
19methionine439.8MTR, TCN2, MUT, MCEE
20homocysteine43 2410.8MTR, TCN2, CBL
21succinic acid28 24 1211.8SUCLA2, SUCLG1
22adenosylcobalamin43 2410.6MMAA, MMAB, MUT, MCEE, TCN2, MTR
23cyanocobalamin49 24 1211.6MUT, MTR, TCN2, MMACHC, MMAA, MMAB
24methylmalonic acid43 2410.6SUCLA2, MCEE, MUT, TCN2, MTR
25hydroxocobalamin43 1210.6MTR, TCN2, MMACHC, MMAA, MMAB, MUT
26acetyl-coa43 2410.5HMGCL, PC, ACSF3
27biotin43 24 1211.5MUT, TCN2, PC, PCCA
28pyruvate439.5GPD2, MTR, PC
29propionate439.5PCCA, MUT
30Phosphate249.1SUCLG1, SUCLA2, PC, PCCA
31vitamin b12438.9MTR, TCN2, CBL, MMACHC, MMAA, MMAB
32cobalamin43 249.8CD320, MUT, MMAB, MMAA, MMACHC, CBL

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 inner membraneGO:00057439.2HMGCL, PC, SUCLG1, GPD2
2mitochondrionGO:00057397.8SUCLG1, SUCLA2, MUT, MMADHC, MMACHC, ACSF3
3mitochondrial matrixGO:00057597.7HMGCL, SUCLG1, SUCLA2, MCEE, MUT, MMAB

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1cobalamin biosynthetic processGO:000923610.0MMACHC, MMAA, MMAB
2succinyl-CoA metabolic processGO:00061049.8SUCLA2, SUCLG1
3tricarboxylic acid cycleGO:00060999.8SUCLA2, SUCLG1
4succinate metabolic processGO:00061059.7SUCLG1, SUCLA2
5short-chain fatty acid catabolic processGO:00196269.5MCEE, MUT, MMAA, PCCA
6fatty acid beta-oxidationGO:00066359.4MCEE, MUT, MMAA, PCCA
7biotin metabolic processGO:00067689.3PCCA, PC
8cobalamin metabolic processGO:00092358.9MUT, MMADHC, MMAB, MMAA, MMACHC, TCN2
9cellular lipid metabolic processGO:00442558.9GPD2, MCEE, MUT, MMAA, PCCA, HMGCL
10water-soluble vitamin metabolic processGO:00067678.1MMACHC, TCN2, MTR, PC, PCCA, CD320
11vitamin metabolic processGO:00067668.0MUT, MMADHC, MMAB, MMAA, MMACHC, TCN2
12small molecule metabolic processGO:00442816.5MMAB, MMAA, MMACHC, TCN2, MTR, PC

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

idNameGO IDScoreTop Affiliating Genes
1succinate-CoA ligase (ADP-forming) activityGO:00047759.8SUCLG1, SUCLA2
2biotin bindingGO:00093749.5PCCA, PC
3cobalamin bindingGO:00314199.3CD320, MTR, TCN2, MMACHC, MUT
4biotin carboxylase activityGO:00040759.3PC, PCCA
5metal ion bindingGO:00468728.3HMGCL, PCCA, PC, TCN2, MUT, MCEE

Products for genes affiliated with Methylmalonic Acidemia

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Sources for Methylmalonic Acidemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet