MMA
MCID: MTH008
MIFTS: 79

Methylmalonic Acidemia (MMA) malady

Genetic diseases, Rare diseases, Nephrological diseases, Metabolic diseases categories
Download this MalaCard

Summaries for Methylmalonic Acidemia

About this section


Fully expand this MalaCard
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 based summary: Methylmalonic Acidemia, also known as methylmalonic aciduria, is related to megaloblastic anemia and homocysteinemia, and has symptoms including nausea/vomiting/regurgitation/merycism/hyperemesis, respiratory distress/dyspnea/respiratory failure/lung volume reduction and obnubilation/coma/lethargia/desorientation. 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: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:65 Methylmalonic acidemia (MMA), also called methylmalonic aciduria, is an autosomal recessivemetabolic... more...

Descriptions from OMIM:46 251100,251110,251000

GeneReviews summary for mma

Aliases & Classifications for Methylmalonic Acidemia

About this section

Methylmalonic Acidemia, Aliases & Descriptions:

Name: Methylmalonic Acidemia 8 65 19 42 21 10 62
Methylmalonic Aciduria 8 19 21 44
Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 8 22 62
Methylmalonic Aciduria, Mut Type 8 9 46
Methylmalonic Aciduria Cblb Type 8 42 62
Methylmalonic Aciduria Cbla Type 42 22 62
Acidemia, Methylmalonic 42 20 22
Mma 65 42 21
Complete Deficiency of Methylmalonyl-Coa Mutase 48 62
Partial Deficiency of Methylmalonyl-Coa Mutase 48 62
Methylmalonic Aciduria Type Cblb 8 22
Isolated Methylmalonic Acidemia 21 62
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, Cblb Type 8
Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cbla 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 Mut- 48
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 48
Vitamin B12-Unresponsive Methylmalonic Aciduria Type Mut0 48
Vitamin B12-Unresponsive Methylmalonic Aciduria Type Mut- 48
Vitamin B12-Unresponsive Methylmalonic Acidemia 48
Vitamin B12-Unresponsive Methylmalonic Aciduria 48
Methylmalonic Acidemia, Cblb Type 8
Methylmalonic Acidemia, Cbla Type 8
Methylmalonic Acidemia Cblb Type 42
Methylmalonic Aciduria Type Cbla 8
Methylmalonic Acidemia Cbla Type 42
Methylmalonicaciduria 19
Mma Cbl a Type 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
vitamin b12-unresponsive methylmalonic acidemia:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Before age 5
complete deficiency of methylmalonyl-coa mutase:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy
partial deficiency of methylmalonyl-coa mutase:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


External Ids:

Disease Ontology8 DOID:14749
ICD10 via Orphanet26 E71.1

Related Diseases for Methylmalonic Acidemia

About this section

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 106)
idRelated DiseaseScoreTop Affiliating Genes
1megaloblastic anemia31.2TCN2, MTR
2homocysteinemia30.9MTR
3propionic acidemia30.7MUT, MMD, PCCA, HMGCL
4neural tube defects30.6MTR, TCN2
5maple syrup urine disease30.6MMD, HMGCL
6homocystinuria30.6HMGCL, MTR, TCN2, MMACHC, MMD, MMAA
7lactic acidosis30.4PC, SUCLG1
8vitamin b12 deficiency29.7MUT, MMD, CBL, TCN2, MTR
9methylmalonic acidemia and homocystinuria cblc type10.6
10methylmalonic acidemia with homocystinuria10.6
11monomelic amyotrophy10.5
12benign focal amyotrophy10.5
13methylmalonic aciduria and homocystinuria type cblf10.5
14methylmalonic aciduria and homocystinuria type cbld10.5
15sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria10.5
16o'sullivan-mcleod syndrome10.5
17hyperglycemia10.4
18transcobalamin ii deficiency10.4
19methylmalonic aciduria microcephaly cataract10.4
20cblf10.4
21mitochondrial dna depletion syndrome 510.4
22organic acidemia10.4PC
23multiple carboxylase deficiency10.4PC
24renal tubular acidosis10.3
25methylmalonic aciduria and homocystinuria type cblc10.3
26dystonia10.3
27mmaa-related methylmalonic acidemia10.3
28mmab-related methylmalonic acidemia10.3
29mut-related methylmalonic acidemia10.3
30mcee-related methylmalonic acidemia10.3
31mmadhc-related methylmalonic acidemia10.3
32methylmalonyl-coa epimerase deficiency10.3
33homocystinuria, cbld type, variant 110.3
34methylmalonic aciduria, vitamin b12-responsive10.3
35methylmalonic aciduria due to transcobalamin receptor defect10.3
36mental retardation, x-linked 310.3
37methylmalonic aciduria and homocystinuria type cblg10.3
38methylmalonic aciduria and homocystinuria type cble10.3
39retinitis10.3
40encephalomyopathy10.3
41suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria10.3
42succinate-coa ligase deficiency10.3
43methylmalonic aciduria, cbld type, variant 210.3
44homocystinuria-megaloblastic anemia, cbl e type10.3
45disorders of intracellular cobalamin metabolism10.3MTR, MMACHC, MMADHC
46diabetes mellitus10.2
47end stage renal failure10.2
48hepatitis10.2
49hypertension10.2
50neutropenia10.2

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



Diseases related to methylmalonic acidemia

Symptoms for Methylmalonic Acidemia

About this section

Symptoms by clinical synopsis from OMIM:

251000

Clinical features from OMIM:

251100,251110,251000

Symptoms:

48 (show all 36)
  • 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
  • dystonia/torticollis/writer's cramp/blepharospasms
  • polynuclear cells/neutrophils anomalies/neutropenia
  • sepsis severe/septicemia
  • anorexia
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • splenomegaly
  • elocution disorders/dysarthria/dysphonia
  • acute abdominal pain/colic
  • movement disorder
  • intracranial/cerebral/meningeal hemorrhage

HPO human phenotypes related to Methylmalonic Acidemia:

(show all 87)
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 nausea and vomiting hallmark (90%) HP:0002017
6 reduced consciousness/confusion hallmark (90%) HP:0004372
7 abnormality of the renal tubule hallmark (90%) HP:0000091
8 dehydration hallmark (90%) HP:0001944
9 hyperammonemia hallmark (90%) HP:0001987
10 anorexia hallmark (90%) HP:0002039
11 respiratory insufficiency hallmark (90%) HP:0002093
12 reduced consciousness/confusion hallmark (90%) HP:0004372
13 muscular hypotonia typical (50%) HP:0001252
14 thrombocytopenia typical (50%) HP:0001873
15 leukopenia typical (50%) HP:0001882
16 hepatomegaly typical (50%) HP:0002240
17 cognitive impairment typical (50%) HP:0100543
18 muscular hypotonia typical (50%) HP:0001252
19 thrombocytopenia typical (50%) HP:0001873
20 respiratory insufficiency typical (50%) HP:0002093
21 hepatomegaly typical (50%) HP:0002240
22 cognitive impairment typical (50%) HP:0100543
23 muscular hypotonia typical (50%) HP:0001252
24 splenomegaly typical (50%) HP:0001744
25 nausea and vomiting typical (50%) HP:0002017
26 neurological speech impairment typical (50%) HP:0002167
27 feeding difficulties in infancy typical (50%) HP:0008872
28 abnormality of immune system physiology typical (50%) HP:0010978
29 cognitive impairment typical (50%) HP:0100543
30 renal insufficiency occasional (7.5%) HP:0000083
31 abnormality of the renal tubule occasional (7.5%) HP:0000091
32 optic atrophy occasional (7.5%) HP:0000648
33 seizures occasional (7.5%) HP:0001250
34 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
35 pancreatitis occasional (7.5%) HP:0001733
36 anemia occasional (7.5%) HP:0001903
37 hyperammonemia occasional (7.5%) HP:0001987
38 chorea occasional (7.5%) HP:0002072
39 neurological speech impairment occasional (7.5%) HP:0002167
40 incoordination occasional (7.5%) HP:0002311
41 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
42 abnormality of immune system physiology occasional (7.5%) HP:0010978
43 renal insufficiency occasional (7.5%) HP:0000083
44 abnormality of the renal tubule occasional (7.5%) HP:0000091
45 optic atrophy occasional (7.5%) HP:0000648
46 pancreatitis occasional (7.5%) HP:0001733
47 abnormality of neutrophils occasional (7.5%) HP:0001874
48 anemia occasional (7.5%) HP:0001903
49 hyperammonemia occasional (7.5%) HP:0001987
50 chorea occasional (7.5%) HP:0002072
51 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
52 sepsis occasional (7.5%) HP:0100806
53 renal insufficiency occasional (7.5%) HP:0000083
54 optic atrophy occasional (7.5%) HP:0000648
55 seizures occasional (7.5%) HP:0001250
56 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
57 pancreatitis occasional (7.5%) HP:0001733
58 thrombocytopenia occasional (7.5%) HP:0001873
59 abnormality of neutrophils occasional (7.5%) HP:0001874
60 anemia occasional (7.5%) HP:0001903
61 abdominal pain occasional (7.5%) HP:0002027
62 chorea occasional (7.5%) HP:0002072
63 intracranial hemorrhage occasional (7.5%) HP:0002170
64 hepatomegaly occasional (7.5%) HP:0002240
65 cerebellar hemorrhage rare (5%) HP:0011695
66 autosomal recessive inheritance HP:0000007
67 muscular hypotonia HP:0001252
68 lethargy HP:0001254
69 coma HP:0001259
70 global developmental delay HP:0001263
71 failure to thrive HP:0001508
72 cardiomyopathy HP:0001638
73 pancreatitis HP:0001733
74 thrombocytopenia HP:0001873
75 leukopenia HP:0001882
76 dehydration HP:0001944
77 tubulointerstitial nephritis HP:0001970
78 hyperammonemia HP:0001987
79 vomiting HP:0002013
80 hyperglycinemia HP:0002154
81 delayed cns myelination HP:0002188
82 hepatomegaly HP:0002240
83 abnormality of the globus pallidus HP:0002453
84 methylmalonic acidemia HP:0002912
85 stage 5 chronic kidney disease HP:0003774
86 metabolic ketoacidosis HP:0005979
87 methylmalonic aciduria HP:0012120

Drugs & Therapeutics for Methylmalonic Acidemia

About this section

Drug clinical trials:

Search ClinicalTrials for Methylmalonic Acidemia

Search NIH Clinical Center for Methylmalonic Acidemia

Genetic Tests for Methylmalonic Acidemia

About this section

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

About this section

MalaCards organs/tissues related to Methylmalonic Acidemia:

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

Animal Models for Methylmalonic Acidemia or affiliated genes

About this section

MGI Mouse Phenotypes related to Methylmalonic Acidemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.7HMGCL, PCCA, CBL, MUT, GPD2

Publications for Methylmalonic Acidemia

About this section

Articles related to Methylmalonic Acidemia:

(show top 50)    (show all 195)
idTitleAuthorsYear
1
MicroRNA-9 regulates neural apoptosis in methylmalonic acidemia via targeting BCL2L11. (24798023)
2014
2
Skin manifestation of methylmalonic acidemia; a rare case. (25058035)
2014
3
MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia. (25190203)
2014
4
Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect. (23686626)
2013
5
Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L). (24330302)
2013
6
Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type. (23580368)
2013
7
Methylmalonic acidemia and kidney transplantation. (23793882)
2013
8
Pregnancy in a methylmalonic acidemia patient with kidney transplantation: a case report. (23711287)
2013
9
Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type. (23954310)
2013
10
Renal growth in isolated methylmalonic acidemia. (23639900)
2013
11
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia. (23898205)
2013
12
Gene therapy in a murine model of methylmalonic acidemia using rAAV9-mediated gene delivery. (21776024)
2012
13
Pre-clinical efficacy and dosing of an AAV8 vector expressing human methylmalonyl-CoA mutase in a murine model of methylmalonic acidemia (MMA). (23046887)
2012
14
Subacute bilateral visual loss in methylmalonic acidemia. (21873889)
2011
15
Growth hormone therapy in neonatal patients with methylmalonic acidemia. (19762313)
2009
16
Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia]. (19573432)
2009
17
Brain damage by mild metabolic derangements in methylmalonic acidemia. (18940555)
2008
18
Methylmalonic acidemia: brain imaging findings in 52 children and a review of the literature. (18636250)
2008
19
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
20
Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia. (17075691)
2007
21
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. (16281286)
2006
22
Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresis. (16823967)
2006
23
Imaging of the brain, including diffusion-weighted imaging in methylmalonic acidemia. (15205843)
2004
24
Successful dialysis in a boy with methylmalonic acidemia. (14986089)
2004
25
Magnetic resonance imaging and spectroscopy in a patient with treated methylmalonic acidemia. (12886142)
2003
26
Metabolic stroke in methylmalonic acidemia five years after liver transplantation. (11865284)
2002
27
A two-year-old female with methylmalonic acidemia and progressive low density lesions in the basal ganglia on CT scans. (10638145)
1999
28
Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations. (8990001)
1997
29
Effective immunoglobulin therapy for brief tonic seizures in methylmalonic acidemia. (9408601)
1997
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
Methylmalonic Acidemia (20301409)
1993
34
Methylmalonic acidemia with a severe chemical but benign clinical phenotype. (8441101)
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

About this section

UniProtKB/Swiss-Prot genetic disease variations for Methylmalonic Acidemia:

64 (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:

6
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

About this section
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

About this section

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 biosynthesis37
9.8SUCLA2, SUCLG1
3
Show member pathways
L-cysteine degradation I37
2-oxoisovalerate decarboxylation to isobutanoyl-CoA37
cysteine biosynthesis III (mammalia)37
2-oxobutanoate degradation I37
9.5PCCA, MUT, MCEE
49.5MCEE, MUT, PCCA
5
Show member pathways
TCA cycle37
pyruvate decarboxylation to acetyl CoA37
NAD phosphorylation and dephosphorylation37
TCA Cycle37
conversion of glucose to acetyl CoA and entry into the TCA cycle37
9.4PC, SUCLA2, SUCLG1
6
Show member pathways
8.7GPD2, MCEE, MUT, MMAA, PCCA, HMGCL
7
Show member pathways
beta-alanine degradation I37
valine degradation I37
pyruvate fermentation to lactate37
isoleucine degradation I37
8.5SUCLG1, SUCLA2, MCEE, MUT, PCCA, HMGCL
8
Show member pathways
L-serine degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
8.2SUCLG1, SUCLA2, MCEE, MUT, MTR, PC
9
Show member pathways
flavin biosynthesis IV (mammalian)37
molybdenum cofactor biosynthesis37
coenzyme A biosynthesis37
thiamin salvage III37
alanine biosynthesis III37
thio-molybdenum cofactor biosynthesis37
biotin-carboxyl carrier protein assembly37
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

About this section
Sources:
24HMDB, 44Novoseek, 28IUPHAR, 11DrugBank, 50PharmGKB
See all sources

Compounds related to Methylmalonic Acidemia according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1R-Methylmalonyl-CoA2410.4MUT, MCEE
2l-methylmalonyl-coa4410.4MTR, MUT
3Cob(I)alamin2410.4MMAB, MTR
4cobinamide44 2411.3MTR, MMAB
5corrinoid4410.3MTR, TCN2
6cystathionine4410.2TCN2, MTR
7methylcobalamin44 2411.2MUT, TCN2, MTR
8Itaconic acid2410.1SUCLG1, SUCLA2
9Itaconyl-CoA2410.1SUCLA2, SUCLG1
10Methylmalonyl-CoA2410.1PCCA, MCEE
11S-Methylmalonyl-CoA2410.1PCCA, MCEE
12vitamin b64410.0MTR, TCN2
13folate4410.0MTR, TCN2, MUT
14IDP249.9SUCLA2, SUCLG1
15Succinyl-CoA249.9MUT, SUCLA2, SUCLG1
16cobalt44 2410.9MTR, TCN2, MMACHC, MUT
17propionyl coa449.9PCCA, PC
18inosine triphosphate44 2410.9SUCLG1, SUCLA2
19methionine449.8MTR, TCN2, MUT, MCEE
20homocysteine44 2410.8MTR, TCN2, CBL
21succinic acid28 24 1111.8SUCLA2, SUCLG1
22adenosylcobalamin44 2410.6MMAA, MMAB, MUT, MCEE, TCN2, MTR
23cyanocobalamin50 24 1111.6MUT, MTR, TCN2, MMACHC, MMAA, MMAB
24methylmalonic acid44 2410.6SUCLA2, MCEE, MUT, TCN2, MTR
25hydroxocobalamin44 1110.6MTR, TCN2, MMACHC, MMAA, MMAB, MUT
26acetyl-coa44 2410.5HMGCL, PC, ACSF3
27biotin44 24 1111.5MUT, TCN2, PC, PCCA
28pyruvate449.5GPD2, MTR, PC
29propionate449.5PCCA, MUT
30Phosphate249.1SUCLG1, SUCLA2, PC, PCCA
31vitamin b12448.9MTR, TCN2, CBL, MMACHC, MMAA, MMAB
32cobalamin44 249.8CD320, MUT, MMAB, MMAA, MMACHC, CBL

GO Terms for genes affiliated with Methylmalonic Acidemia

About this section

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:00923610.0MMACHC, 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:0067678.1MMACHC, 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:0314199.3CD320, 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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Methylmalonic Acidemia

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet