MMA
MCID: MTH008
MIFTS: 52

Methylmalonic Acidemia (MMA)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Methylmalonic Acidemia

MalaCards integrated aliases for Methylmalonic Acidemia:

Name: Methylmalonic Acidemia 12 73 20 43 29 6 15
Methylmalonic Aciduria 12 43 36 29 54 6
Mma 20 43
Isolated Methylmalonic Acidemia 43
Acidemia, Methylmalonic 20

Classifications:



External Ids:

Disease Ontology 12 DOID:14749
KEGG 36 H00174

Summaries for Methylmalonic Acidemia

GARD : 20 Methylmalonic acidemia refers to a group of inherited conditions in which the body can't breakdown certain parts of proteins and fats. This leads to a build-up of toxic substances and bouts of serious illness called decompensation events or metabolic crises. Symptoms of a decompensation event include poor feeding, vomiting, trouble breathing, and lack of energy (lethargy). These can occur at different ages and can range from mild to severe. Methylmalonic acidemia is caused by changes in several different genes and is inherited in an autosomal recessive fashion. Treatment includes aggressive management of decompensation events, a low-protein diet, certain medications, antibiotics and, in some cases, liver and kidney transplantation. Some subtypes of methylmalonic acidemia respond to vitamin B12. Long-term complications can include growth delay, intellectual disability, kidney disease, and pancreatitis. Methylmalonic acidemia can be isolated or may occur along with another condition called homocystinuria.

MalaCards based summary : Methylmalonic Acidemia, also known as methylmalonic aciduria, is related to methylmalonic acidemia with homocystinuria and methylmalonic aciduria, cblb type. An important gene associated with Methylmalonic Acidemia is MMAB (Metabolism Of Cobalamin Associated B), and among its related pathways/superpathways are Valine, leucine and isoleucine degradation and Metabolism. The drugs Metronidazole and Biotin have been mentioned in the context of this disorder. Affiliated tissues include kidney, pancreas and liver, and related phenotypes are Decreased HPV16-GFP infection and liver/biliary system

Disease Ontology : 12 An organic acidemia that involves an accumulation of methylmalonic acid in the blood.

MedlinePlus Genetics : 43 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.

KEGG : 36 Methylmalonic aciduria (MMA) is caused by a deficiency of methylmalonyl-CoA mutase (mut type), which is a vitamin B12-dependent enzyme. Defects of adenosylcobalamin metabolism lead to variant forms of MMA (cblA and cblB type).

Wikipedia : 73 Methylmalonic acidemia, also called methylmalonic aciduria,[help 1] is an autosomal recessive metabolic... more...

Related Diseases for Methylmalonic Acidemia

Diseases in the Methylmalonic Acidemia family:

Methylmalonic Acidemia Due to Transcobalamin Receptor Defect

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

(show top 50) (show all 326)
# Related Disease Score Top Affiliating Genes
1 methylmalonic acidemia with homocystinuria 33.5 MMADHC MMACHC ABCD4
2 methylmalonic aciduria, cblb type 33.3 MVK MMACHC MMAB
3 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 33.3 MMUT MMACHC
4 methylmalonic aciduria, cbla type 33.2 MMUT MMADHC MMAB MMAA MCEE
5 methylmalonic acidemia and homocysteinemia, cblx type 33.2 MTR MTHFR MMACHC
6 methylmalonic aciduria and homocystinuria, cblc type 33.1 MTR MMUT MMADHC MMACHC MMAB MMAA
7 combined malonic and methylmalonic aciduria 33.1 MMADHC MMAB ACSF3
8 isolated methylmalonic acidemia 32.9 MMUT MMADHC MMAB MMAA MCEE ACSF3
9 adenosylcobalamin deficiency 32.9 MVK MMAB MMAA
10 homocysteinemia 31.5 MTR MTHFR MMACHC
11 metabolic acidosis 31.5 MCEE HMGCL HLCS
12 homocystinuria 31.3 TCN2 OTC MTR MTHFR MMUT MMADHC
13 disorders of intracellular cobalamin metabolism 31.2 MTR MMADHC MMACHC ABCD4
14 megaloblastic anemia 31.1 TCN2 MTR MTHFR MMUT MMADHC MMACHC
15 propionic acidemia 31.0 PCCA PC OTC MMUT MMADHC MMACHC
16 abdominal obesity-metabolic syndrome 1 30.7 PCCA OTC ACADM
17 organic acidemia 30.7 PCCA MTR MMUT MMADHC MMACHC MMAB
18 isovaleric acidemia 30.5 MMUT MMAA
19 alpha-methylacetoacetic aciduria 30.5 MMACHC MMAA HMGCL HLCS
20 maple syrup urine disease 30.5 PCCA OTC MMUT MMADHC MMAA HMGCL
21 vitamin b12 deficiency 30.4 TCN2 MTR MTHFR MMUT MMACHC
22 deficiency anemia 30.4 TCN2 MTR MMADHC MMAA ATP7B
23 phenylketonuria 30.3 OTC MVK MTR MTHFR ACADM
24 multiple carboxylase deficiency 30.3 PCCA PC OTC HLCS ACADM
25 amino acid metabolic disorder 30.2 PCCA OTC MTR MTHFR MMUT MMADHC
26 mitochondrial dna depletion syndrome 5 11.8
27 mitochondrial dna depletion syndrome 9 11.7
28 methylmalonic aciduria and homocystinuria, cbld type 11.7
29 methylmalonic aciduria and homocystinuria, cblf type 11.6
30 methylmalonic acidemia due to transcobalamin receptor defect 11.5
31 methylmalonic aciduria, transient, due to transcobalamin receptor defect 11.5
32 methylmalonic aciduria and homocystinuria, cblj type 11.5
33 amyotrophy, monomelic 11.5
34 o'sullivan-mcleod syndrome 11.3
35 suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 11.3
36 methylmalonic acidemia without homocystinuria 11.3
37 methylmalonyl-coa epimerase deficiency 11.3
38 striatonigral degeneration, infantile 11.2
39 sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 11.2
40 mitochondrial dna depletion syndrome 11.1
41 transcobalamin ii deficiency 11.1
42 methylmalonic aciduria and homocystinuria type cble 11.1
43 methylmalonic aciduria and homocystinuria type cblg 11.1
44 homocystinuria-megaloblastic anemia, cble complementation type 11.1
45 homocystinuria-megaloblastic anemia, cblg complementation type 11.1
46 mohr-tranebjaerg syndrome 11.1
47 motor neuron disease 10.9
48 carbonic anhydrase va deficiency, hyperammonemia due to 10.7
49 hypotonia 10.5
50 inherited metabolic disorder 10.5

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



Diseases related to Methylmalonic Acidemia

Symptoms & Phenotypes for Methylmalonic Acidemia

GenomeRNAi Phenotypes related to Methylmalonic Acidemia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased HPV16-GFP infection GR00350-A 8.8 ABCD4 ACADM MMAA

MGI Mouse Phenotypes related to Methylmalonic Acidemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.17 ACADM ATP7B HMGCL MMUT MTHFR OTC

Drugs & Therapeutics for Methylmalonic Acidemia

Drugs for Methylmalonic Acidemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metronidazole Approved Phase 3 443-48-1 4173
2
Biotin Approved, Investigational, Nutraceutical Phase 3 58-85-5 171548
3 carnitine Phase 3
4 Vitamin B7 Phase 3
5
Glutamic acid Approved, Nutraceutical Phase 2 56-86-0 33032
6 Antioxidants Phase 2
7 Pharmaceutical Solutions Phase 2
8
Hydroxocobalamin Approved 13422-51-0 11953898 15589840
9
Methylcobalamin Approved, Investigational 13422-55-4
10
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
11
Cobalamin Experimental 13408-78-1 6857388
12 Vitamin B12
13 Vitamin B 12
14 Vitamin B Complex
15 Vitamins

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Randomized Multicentre Comparative Trial to Evaluate the Long Term Effectiveness of the Use of Carbaglu® in Patients With Propionic Acidemia (PA) or Methylmalonic Acidemia (MMA) Completed NCT02426775 Phase 3 Carglumic Acid
2 Phase 2, Double-Blind, Placebo Controlled Clinical Trial of EPI-743 in Subjects With Cobalamin C Defect Completed NCT01793090 Phase 2 Epi-743
3 A Phase 2 Open-label, Dose Escalation Study of HST5040 in Subjects With Propionic or Methylmalonic Acidemia Followed by a Randomized, Double-blind, Placebo-controlled, 2-period Crossover Study and an Open-label, Long-term Extension Study Recruiting NCT04732429 Phase 2 HST5040;Placebo
4 A Phase 1/2 Open-label Clinical Study of hLB-001 Gene Therapy in Pediatric Patients With Methylmalonic Acidemia Characterized by MMUT Mutations Recruiting NCT04581785 Phase 1, Phase 2
5 A Phase 2 Study of Ataluren (PTC124®) as an Oral Treatment for Nonsense Mutation Methylmalonic Acidemia Terminated NCT01141075 Phase 2 Ataluren
6 Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia Terminated NCT01597440 Phase 2 N-carbamylglutamate
7 A Global, Phase 1/2, Open Label, Dose Escalation Study to Evaluate the Safety, Pharmacodynamics, and Pharmacokinetics of mRNA-3704 in Patients With Isolated Methylmalonic Acidemia Due to Methylmalonyl-CoA Mutase Deficiency Withdrawn NCT03810690 Phase 1, Phase 2
8 Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome Study Unknown status NCT01289158
9 Understanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU®: A Mixed Methods Approach Recruiting NCT04176523 Carglumic Acid
10 Clinical and Basic Investigations of Methylmalonic Acidemia (MMA) and Related Disorders Recruiting NCT00078078
11 A Longitudinal, Exploratory, Natural History Study to Further Characterize and Describe the Signs and Symptoms of Patients With Organic Acidemias Active, not recruiting NCT03484767
12 Evaluate the Long Term Effectiveness & Safety of the Use of Carglumic Acid (Carbaglu®) in Patients With Propionic Acidemia (PA) or Methylmalonic Acidemia (MMA). Enrolling by invitation NCT04284917 Carglumic Acid (Carbaglu®)

Search NIH Clinical Center for Methylmalonic Acidemia

Genetic Tests for Methylmalonic Acidemia

Genetic tests related to Methylmalonic Acidemia:

# Genetic test Affiliating Genes
1 Methylmalonic Acidemia 29
2 Methylmalonic Aciduria 29

Anatomical Context for Methylmalonic Acidemia

MalaCards organs/tissues related to Methylmalonic Acidemia:

40
Kidney, Pancreas, Liver, Brain, Cortex, Heart, Lung

Publications for Methylmalonic Acidemia

Articles related to Methylmalonic Acidemia:

(show top 50) (show all 1197)
# Title Authors PMID Year
1
Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations. 61 6 54
17113806 2007
2
Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia. 54 61 6
17075691 2007
3
Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria. 61 6 54
16410054 2006
4
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. 61 6 54
16281286 2006
5
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. 61 6 54
15643616 2005
6
Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism. 61 54 6
15523652 2004
7
Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation. 54 6 61
15308131 2004
8
Novel mutations in a Thai patient with methylmalonic acidemia. 61 54 6
12948746 2003
9
Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations. 54 61 6
12402345 2002
10
mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation. 61 54 6
10923046 2000
11
Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut0 patients. 6 61 54
9929975 1999
12
Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation. 6 61 54
9285782 1997
13
A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia. 6 61
31622506 2020
14
Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria. 61 6
28497574 2017
15
Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience. 6 61
27591164 2017
16
Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT. 6 61
27167370 2016
17
Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations. 6 61
27233228 2016
18
Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia. 61 6
26790480 2016
19
Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia. 6 61
26615597 2016
20
Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia. 61 6
26370686 2015
21
Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants. 6 61
26454439 2015
22
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism. 61 6
25689098 2015
23
Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies. 6 61
24813872 2015
24
Treatment of methylmalonic acidemia by liver or combined liver-kidney transplantation. 61 6
25771389 2015
25
[Detection of pathogenic mutations for methylmalonic acidemia using new-generation semiconductor targeted sequencing]. 61 6
25636100 2015
26
Mutation analysis of methylmalonyl CoA mutase gene exon 2 in Egyptian families: Identification of 25 novel allelic variants. 61 6
25750861 2015
27
[Acute encephalopathy induced by vaccination in an infant with methylmalonic aciduria cblA]. 6 61
25748407 2015
28
Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency. 6 61
25125334 2014
29
Mutation analysis and prenatal diagnosis for three families affected by isolated methylmalonic aciduria. 61 6
25299208 2014
30
Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up. 6 61
24095221 2013
31
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. 6 61
23479330 2013
32
High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria. 61 6
23707710 2013
33
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias. 6 61
24059531 2013
34
Pregnancy in a methylmalonic acidemia patient with kidney transplantation: a case report. 61 6
23711287 2013
35
High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria. 6 61
23026888 2012
36
Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia. 6 61
22695176 2012
37
Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations. 6 61
22727635 2012
38
Neurocognitive phenotype of isolated methylmalonic acidemia. 6 61
22614770 2012
39
Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients. 61 6
23430940 2012
40
Loss of allostery and coenzyme B12 delivery by a pathogenic mutation in adenosyltransferase. 61 6
21604717 2011
41
Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations. 61 6
21048060 2011
42
Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type. 61 6
20556797 2010
43
Newborn screening for methylmalonic aciduria by tandem mass spectrometry: 7 years' experience from two centers in Taiwan. 61 6
20603089 2010
44
Long-term outcome in methylmalonic aciduria: a series of 30 French patients. 61 6
19375370 2009
45
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. 6 61
16311595 2006
46
Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. 6 61
15781192 2005
47
Mutation analysis of the MCM gene in Korean patients with MMA. 61 6
15781199 2005
48
Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. 61 6
12471062 2002
49
N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients. 61 6
11528502 2001
50
Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation. 6 61
1670635 1991

Variations for Methylmalonic Acidemia

ClinVar genetic disease variations for Methylmalonic Acidemia:

6 (show top 50) (show all 189)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MMUT NM_000255.4(MMUT):c.1083+2T>A SNV Pathogenic 495775 rs746085723 GRCh37: 6:49421296-49421296
GRCh38: 6:49453583-49453583
2 MMAA NM_172250.3(MMAA):c.742C>T (p.Gln248Ter) SNV Pathogenic 496554 rs757548934 GRCh37: 4:146572222-146572222
GRCh38: 4:145651070-145651070
3 MMUT NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter) SNV Pathogenic 495778 rs774159791 GRCh37: 6:49416574-49416574
GRCh38: 6:49448861-49448861
4 MMUT NM_000255.4(MMUT):c.1025C>A (p.Ser342Ter) SNV Pathogenic 495777 rs770466993 GRCh37: 6:49421356-49421356
GRCh38: 6:49453643-49453643
5 MMUT NM_000255.4(MMUT):c.982C>T (p.Leu328Phe) SNV Pathogenic 203844 rs796052002 GRCh37: 6:49421399-49421399
GRCh38: 6:49453686-49453686
6 MMUT NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter) SNV Pathogenic 556124 rs761525156 GRCh37: 6:49415412-49415412
GRCh38: 6:49447699-49447699
7 MMUT NM_000255.4(MMUT):c.1194_1195TG[1] (p.Val399fs) Microsatellite Pathogenic 578141 rs1227030642 GRCh37: 6:49419314-49419315
GRCh38: 6:49451601-49451602
8 MMUT NM_000255.4(MMUT):c.682C>T (p.Arg228Ter) SNV Pathogenic 203855 rs200596762 GRCh37: 6:49425475-49425475
GRCh38: 6:49457762-49457762
9 MMUT NM_000255.4(MMUT):c.454C>T (p.Arg152Ter) SNV Pathogenic 426467 rs780068818 GRCh37: 6:49425703-49425703
GRCh38: 6:49457990-49457990
10 MMUT NM_000255.4(MMUT):c.1560+1G>T SNV Pathogenic 203849 rs200019422 GRCh37: 6:49415382-49415382
GRCh38: 6:49447669-49447669
11 MMUT NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter) SNV Pathogenic 551275 rs764173488 GRCh37: 6:49415462-49415462
GRCh38: 6:49447749-49447749
12 MMUT NM_000255.4(MMUT):c.421del (p.Ala141fs) Deletion Pathogenic 928834 GRCh37: 6:49425736-49425736
GRCh38: 6:49458023-49458023
13 MMUT NM_000255.4(MMUT):c.1677-1G>A SNV Pathogenic 550012 rs754369323 GRCh37: 6:49409685-49409685
GRCh38: 6:49441972-49441972
14 MMUT NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter) SNV Pathogenic 554675 rs1238694184 GRCh37: 6:49409620-49409620
GRCh38: 6:49441907-49441907
15 MMUT NM_000255.4(MMUT):c.1420C>T (p.Arg474Ter) SNV Pathogenic 554873 rs887126161 GRCh37: 6:49416553-49416553
GRCh38: 6:49448840-49448840
16 MMAA NM_172250.3(MMAA):c.586C>T (p.Arg196Ter) SNV Pathogenic 466217 rs1029096863 GRCh37: 4:146567161-146567161
GRCh38: 4:145646009-145646009
17 MMAA NM_172250.3(MMAA):c.450dup (p.Pro151fs) Duplication Pathogenic 551182 rs754973022 GRCh37: 4:146563522-146563523
GRCh38: 4:145642370-145642371
18 MMUT NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter) SNV Pathogenic 167310 rs727504020 GRCh37: 6:49419304-49419304
GRCh38: 6:49451591-49451591
19 ACSF3 NM_001243279.3(ACSF3):c.1446_1447del (p.Tyr482_Lys483delinsTer) Deletion Pathogenic 419126 rs1064793662 GRCh37: 16:89211753-89211754
GRCh38: 16:89145345-89145346
20 MMUT NM_000255.4(MMUT):c.729_730insTT (p.Asp244fs) Insertion Pathogenic 552079 rs780283588 GRCh37: 6:49425427-49425428
GRCh38: 6:49457714-49457715
21 MMUT NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs) Indel Pathogenic 222942 rs879253851 GRCh37: 6:49399497-49399500
GRCh38: 6:49431784-49431787
22 MMUT NM_000255.4(MMUT):c.1022dup (p.Asn341fs) Duplication Pathogenic 553958 rs752898811 GRCh37: 6:49421358-49421359
GRCh38: 6:49453645-49453646
23 MMUT NM_000255.4(MMUT):c.323G>A (p.Arg108His) SNV Pathogenic 100707 rs483352778 GRCh37: 6:49426857-49426857
GRCh38: 6:49459144-49459144
24 MMUT NM_000255.4(MMUT):c.850G>T (p.Gly284Ter) SNV Pathogenic 553762 rs761477436 GRCh37: 6:49423854-49423854
GRCh38: 6:49456141-49456141
25 MMUT NM_000255.4(MMUT):c.753+2T>A SNV Pathogenic 203856 rs796052006 GRCh37: 6:49425402-49425402
GRCh38: 6:49457689-49457689
26 ACSF3 NM_001243279.3(ACSF3):c.424C>T (p.Gln142Ter) SNV Pathogenic 839825 GRCh37: 16:89167513-89167513
GRCh38: 16:89101105-89101105
27 MMUT NM_000255.4(MMUT):c.281G>T (p.Gly94Val) SNV Pathogenic 657887 rs535411418 GRCh37: 6:49426899-49426899
GRCh38: 6:49459186-49459186
28 MMUT NM_000255.4(MMUT):c.1677-1G>C SNV Pathogenic 556968 rs754369323 GRCh37: 6:49409685-49409685
GRCh38: 6:49441972-49441972
29 ACSF3 NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) SNV Pathogenic 31136 rs150487794 GRCh37: 16:89180844-89180844
GRCh38: 16:89114436-89114436
30 MMUT NM_000255.4(MMUT):c.572C>A (p.Ala191Glu) SNV Pathogenic 203854 rs760782399 GRCh37: 6:49425585-49425585
GRCh38: 6:49457872-49457872
31 MMUT NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr) SNV Pathogenic 1886 rs121918256 GRCh37: 6:49425502-49425502
GRCh38: 6:49457789-49457789
32 MMAA NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) SNV Pathogenic 3160 rs104893851 GRCh37: 4:146560724-146560724
GRCh38: 4:145639572-145639572
33 MMUT NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp) SNV Pathogenic 218990 rs753288303 GRCh37: 6:49419231-49419231
GRCh38: 6:49451518-49451518
34 MMUT NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp) SNV Pathogenic 218996 rs777758903 GRCh37: 6:49403213-49403213
GRCh38: 6:49435500-49435500
35 MMAA NM_172250.3(MMAA):c.64C>T (p.Arg22Ter) SNV Pathogenic 218969 rs765799472 GRCh37: 4:146560355-146560355
GRCh38: 4:145639203-145639203
36 MMAB NM_052845.4(MMAB):c.197-1G>T SNV Pathogenic 219008 rs763935916 GRCh37: 12:110006669-110006669
GRCh38: 12:109568864-109568864
37 MMAA NM_172250.3(MMAA):c.593_596del (p.Thr198fs) Deletion Pathogenic 203815 rs796051993 GRCh37: 4:146567165-146567168
GRCh38: 4:145646013-145646016
38 MMAB NM_052845.4(MMAB):c.700C>T (p.Gln234Ter) SNV Pathogenic 203820 rs369296618 GRCh37: 12:109994886-109994886
GRCh38: 12:109557081-109557081
39 MMUT NM_000255.4(MMUT):c.278G>A (p.Arg93His) SNV Pathogenic 1880 rs121918251 GRCh37: 6:49426902-49426902
GRCh38: 6:49459189-49459189
40 MMUT NM_000255.4(MMUT):c.91C>T (p.Arg31Ter) SNV Pathogenic 92688 rs398123278 GRCh37: 6:49427089-49427089
GRCh38: 6:49459376-49459376
41 MMUT NM_000255.4(MMUT):c.2150G>T (p.Gly717Val) SNV Pathogenic 1881 rs121918252 GRCh37: 6:49399544-49399544
GRCh38: 6:49431831-49431831
42 MMUT NM_000255.4(MMUT):c.1106G>A (p.Arg369His) SNV Pathogenic 203846 rs564069299 GRCh37: 6:49419405-49419405
GRCh38: 6:49451692-49451692
43 MMUT NM_000255.4(MMUT):c.322C>T (p.Arg108Cys) SNV Pathogenic 1887 rs121918257 GRCh37: 6:49426858-49426858
GRCh38: 6:49459145-49459145
44 MMUT NM_000255.4(MMUT):c.1105C>T (p.Arg369Cys) SNV Pathogenic 218989 rs772552898 GRCh37: 6:49419406-49419406
GRCh38: 6:49451693-49451693
45 MMUT NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter) SNV Pathogenic 218998 rs779990936 GRCh37: 6:49399515-49399515
GRCh38: 6:49431802-49431802
46 MMAA NM_172250.3(MMAA):c.988C>T (p.Arg330Ter) SNV Pathogenic 203816 rs571038432 GRCh37: 4:146576317-146576317
GRCh38: 4:145655165-145655165
47 MMAB NM_052845.4(MMAB):c.291-1G>A SNV Pathogenic 219004 rs199971687 GRCh37: 12:110002982-110002982
GRCh38: 12:109565177-109565177
48 MMUT NM_000255.4(MMUT):c.1630_1631delinsTA (p.Gly544Ter) Indel Pathogenic 203860 rs796052008 GRCh37: 6:49412397-49412398
GRCh38: 6:49444684-49444685
49 MMUT NM_000255.4(MMUT):c.671_678dup (p.Val227fs) Duplication Pathogenic 554641 rs758008398 GRCh37: 6:49425478-49425479
GRCh38: 6:49457765-49457766
50 MMUT NM_000255.4(MMUT):c.19C>T (p.Gln7Ter) SNV Pathogenic 218984 rs761773115 GRCh37: 6:49427161-49427161
GRCh38: 6:49459448-49459448

Expression for Methylmalonic Acidemia

Search GEO for disease gene expression data for Methylmalonic Acidemia.

Pathways for Methylmalonic Acidemia

Pathways related to Methylmalonic Acidemia according to KEGG:

36
# Name Kegg Source Accession
1 Valine, leucine and isoleucine degradation hsa00280

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

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.86 TCN2 PCCA PC OTC MVK MTR
2
Show member pathways
13.55 TCN2 PCCA PC MTR MMUT MMADHC
3
Show member pathways
12.79 PCCA MMUT MMAA MCEE HMGCL ACSF3
4
Show member pathways
12.27 TCN2 MTR MTHFR MMUT MMAB MCEE
5
Show member pathways
12.19 PCCA PC OTC MTR MTHFR MMUT
6
Show member pathways
12.01 TCN2 PCCA PC MTR MTHFR MMUT
7
Show member pathways
11.92 PCCA MMUT MCEE HMGCL ACSF3 ACADM
8
Show member pathways
11.9 TCN2 MTR MTHFR
9 11.79 PC OTC MMUT HMGCL ACADM
10
Show member pathways
11.73 TCN2 PCCA PC MTR MMUT MMADHC
11 11.63 MVK HMGCL ABCD4
12
Show member pathways
11.62 PCCA MMUT MMAA MCEE ACADM
13 11.22 PCCA MMUT MCEE
14 11.15 PCCA MMUT MCEE
15
Show member pathways
10.97 PCCA MCEE
16 10.94 TCN2 MMACHC
17 10.88 TCN2 MTR MMUT MMADHC MMACHC MMAB
18
Show member pathways
10.63 PCCA PC
19
Show member pathways
10.13 MMUT MMAA

GO Terms for Methylmalonic Acidemia

Cellular components related to Methylmalonic Acidemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.77 PCCA PC OTC MMUT MMADHC MMAB
2 peroxisome GO:0005777 9.33 MVK HMGCL ABCD4
3 mitochondrial matrix GO:0005759 9.32 PCCA PC OTC MMUT MMAB MMAA

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

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.85 PCCA PC MVK HMGCL ACSF3 ACADM
2 liver development GO:0001889 9.63 OTC HMGCL ACADM
3 methionine biosynthetic process GO:0009086 9.43 MTR MTHFR
4 biotin metabolic process GO:0006768 9.43 PCCA PC HLCS
5 homocysteine metabolic process GO:0050667 9.4 MTHFR MMUT
6 cobalamin biosynthetic process GO:0009236 9.33 MMACHC MMAB MMAA
7 response to biotin GO:0070781 9.32 OTC HLCS
8 short-chain fatty acid catabolic process GO:0019626 9.26 PCCA MMUT MMAA MCEE
9 cobalamin metabolic process GO:0009235 9.23 TCN2 MTR MMUT MMADHC MMACHC MMAB

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.98 PC OTC MVK MMUT MMAA HLCS
2 ATP binding GO:0005524 9.91 PCCA PC MVK MMAB HLCS CDKL5
3 nucleotide binding GO:0000166 9.85 PCCA PC MVK MMAB MMAA HLCS
4 catalytic activity GO:0003824 9.8 PC MTHFR MMUT HMGCL HLCS ACSF3
5 ligase activity GO:0016874 9.67 PCCA PC HLCS ACSF3
6 modified amino acid binding GO:0072341 9.4 MTHFR MMUT
7 biotin binding GO:0009374 9.13 PCCA PC HLCS
8 cobalamin binding GO:0031419 9.02 TCN2 MTR MMUT MMACHC MMAB

Sources for Methylmalonic Acidemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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