MMA
MCID: MTH008
MIFTS: 51

Methylmalonic Acidemia (MMA)

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Methylmalonic Acidemia

MalaCards integrated aliases for Methylmalonic Acidemia:

Name: Methylmalonic Acidemia 12 74 52 25 29 6 15
Methylmalonic Aciduria 12 25 36 29 54
Mma 52 25
Isolated Methylmalonic Acidemia 25
Acidemia, Methylmalonic 52

Classifications:



External Ids:

Disease Ontology 12 DOID:14749
KEGG 36 H00174

Summaries for Methylmalonic Acidemia

NIH Rare Diseases : 52 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 isolated methylmalonic acidemia. An important gene associated with Methylmalonic Acidemia is MMAA (Metabolism Of Cobalamin Associated A), and among its related pathways/superpathways are Valine, leucine and isoleucine degradation and Metabolism. The drugs carbamide peroxide and Metronidazole have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and heart.

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

Genetics Home Reference : 25 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 : 74 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 330)
# Related Disease Score Top Affiliating Genes
1 methylmalonic acidemia with homocystinuria 35.3 MMADHC MMACHC
2 isolated methylmalonic acidemia 34.5 MMUT MMADHC MMAB MMAA MCEE
3 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 34.5 MMUT MMACHC
4 methylmalonic aciduria, cbla type 34.1 MMUT MMADHC MMAB MMAA MCEE
5 methylmalonic aciduria, cblb type 34.1 MVK MTR MMUT MMAB MMAA MCEE
6 methylmalonic aciduria and homocystinuria, cbld type 34.0 MMADHC CBL
7 methylmalonic aciduria and homocystinuria, cblc type 33.9 MTR MMUT MMD MMADHC MMACHC MMAB
8 transcobalamin ii deficiency 33.2 MMADHC MMAA LMBRD1
9 methylmalonic aciduria and homocystinuria type cblg 32.8 MTRR MTR
10 methylmalonic aciduria and homocystinuria type cble 32.8 MTRR MTR
11 homocysteinemia 31.5 MTRR MTR MMACHC
12 homocystinuria 31.4 MTRR MTR MMUT MMADHC MMACHC LMBRD1
13 propionic acidemia 31.2 PCCA MMUT MMD MMADHC MMAB MMAA
14 isovaleric acidemia 31.1 MMUT MMD MMAA
15 disorders of intracellular cobalamin metabolism 30.9 MTRR MTR MMADHC-DT MMADHC MMACHC LMBRD1
16 seizure disorder 30.8 MTR CDKL5
17 megaloblastic anemia 30.8 MTRR MTR MMADHC LMBRD1 CD320 CBL
18 3-methylcrotonyl-coa carboxylase deficiency 30.7 MMD MMAA ACSF3
19 pernicious anemia 30.6 MTR MMD CBL
20 maple syrup urine disease 30.6 PRODH MMUT MMD MMAA
21 phenylketonuria 30.5 MVK MTRR MTR
22 ventricular septal defect 30.4 PRODH MTRR MTR
23 vitamin b12 deficiency 30.1 MTR MMUT MMD MMADHC MMACHC LMBRD1
24 organic acidemia 29.2 SUCLG1 PRODH PCCA MTRR MTR MMUT
25 methylmalonic acidemia and homocysteinemia, cblx type 12.8
26 methylmalonic acidemia due to transcobalamin receptor defect 12.7
27 mitochondrial dna depletion syndrome 5 12.6
28 methylmalonic acidemia without homocystinuria 12.6
29 suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.5
30 sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.5
31 adenosylcobalamin deficiency 12.3
32 methylmalonic aciduria and homocystinuria, cblf type 12.2
33 combined malonic and methylmalonic aciduria 12.1
34 amyotrophy, monomelic 12.0
35 monoclonal mast cell activation syndrome 11.9
36 methylmalonyl-coa epimerase deficiency 11.9
37 mitochondrial dna depletion syndrome 9 11.8
38 mitochondrial dna depletion syndrome 11.7
39 methylmalonic aciduria, transient, due to transcobalamin receptor defect 11.7
40 methylmalonic aciduria and homocystinuria, cblj type 11.6
41 o'sullivan-mcleod syndrome 11.6
42 striatonigral degeneration, infantile 11.5
43 homocystinuria-megaloblastic anemia, cble complementation type 11.4
44 homocystinuria-megaloblastic anemia, cblg complementation type 11.4
45 mohr-tranebjaerg syndrome 11.4
46 metabolic acidosis 10.8
47 carbonic anhydrase va deficiency, hyperammonemia due to 10.8
48 inherited metabolic disorder 10.6
49 hypotonia 10.6
50 autosomal recessive disease 10.5

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



Diseases related to Methylmalonic Acidemia

Symptoms & Phenotypes for Methylmalonic Acidemia

Drugs & Therapeutics for Methylmalonic Acidemia

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

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
carbamide peroxide Approved Phase 2, Phase 3 124-43-6
2
Metronidazole Approved Phase 3 443-48-1 4173
3
Biotin Approved, Investigational, Nutraceutical Phase 3 58-85-5 171548
4 carnitine Phase 3
5 Vitamin B7 Phase 3
6
Methylcobalamin Approved, Investigational Phase 2 13422-55-4
7
Hydroxocobalamin Approved Phase 2 13422-51-0 11953898 15589840
8
Cyanocobalamin Approved, Nutraceutical Phase 2 68-19-9 44176380
9
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
10
Ornithine Approved, Nutraceutical Phase 2 70-26-8, 3184-13-2 6262
11
Glutamic acid Approved, Nutraceutical Phase 2 56-86-0 33032
12
Cobalamin Experimental Phase 2 13408-78-1 6857388
13 Vitamins Phase 2
14 Vitamin B 12 Phase 2
15 Vitamin B Complex Phase 2
16 Vitamin B12 Phase 2
17 Micronutrients Phase 2
18 Trace Elements Phase 2
19 Antioxidants Phase 2
20 Nutrients Phase 2
21 Vitamin B9 Phase 2
22 Hematinics Phase 2
23 Folate Phase 2
24 Ubiquinone Phase 2

Interventional clinical trials:

(show all 14)
# 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 N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia Completed NCT00843921 Phase 2, Phase 3 N-carbamylglutamate
3 Phase 2, Double-Blind, Placebo Controlled Clinical Trial of EPI-743 in Subjects With Cobalamin C Defect Completed NCT01793090 Phase 2 Epi-743
4 Hypothermia Treatment in Hyperammonemia and Encephalopathy Completed NCT01624311 Phase 2
5 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 Recruiting NCT03810690 Phase 1, Phase 2
6 Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia Active, not recruiting NCT01599286 Phase 2 Carbaglu;Placebo;Standard of Care Treatment
7 A Phase 2 Study of Ataluren (PTC124®) as an Oral Treatment for Nonsense Mutation Methylmalonic Acidemia Terminated NCT01141075 Phase 2 Ataluren (PTC124)
8 Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia Terminated NCT01597440 Phase 2 N-carbamylglutamate
9 Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate Withdrawn NCT01341379 Phase 2 N-carbamylglutamate
10 Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome Study Unknown status NCT01289158
11 Salivary Proteomics in Disease and Health Completed NCT00100204
12 A Longitudinal, Exploratory, Natural History Study to Further Characterize and Describe the Signs and Symptoms of Patients With Organic Acidemias Recruiting NCT03484767
13 Understanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU®: A Mixed Methods Approach Recruiting NCT04176523 Carglumic Acid
14 Clinical and Basic Investigations of Methylmalonic Acidemia (MMA) and Related Disorders Recruiting NCT00078078

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
Liver, Kidney, Heart, Pancreas, Brain, Testes, Prostate

Publications for Methylmalonic Acidemia

Articles related to Methylmalonic Acidemia:

(show top 50) (show all 1108)
# Title Authors PMID Year
1
Isolated Methylmalonic Acidemia 61 6
20301409 2005
2
Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening? 61 52
31828787 2019
3
Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies. 61 52
31119742 2019
4
Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications. 61 52
31119747 2019
5
Methylmalonic acidemia: Current status and research priorities. 61 52
29862147 2018
6
Methylmalonic and propionic acidemias: clinical management update. 61 52
27653704 2016
7
Rapid diagnosis of methylmalonic and propionic acidemias: quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns. 52
11673377 2001
8
Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations. 61
31921599 2020
9
In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria. 61
31770620 2020
10
Intrahepatic Administration of Human Liver Stem Cells in Infants with Inherited Neonatal-Onset Hyperammonemia: A Phase I Study. 61
31792768 2020
11
Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene. 61
32013889 2020
12
[Analysis of 12 cases with methylmalonicacidemia cblA type]. 61
32034731 2020
13
Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause. 61
31462756 2020
14
Etiology of liver dysfunction after liver transplantation in children with metabolic disorders. 61
31957215 2020
15
The correlation between the evolution of bilateral basal ganglia hemorrhage using MR imaging and neurological damage recovery in an infant with methylmalonic aciduria. 61
31937422 2020
16
Segmental uniparental disomy of chromosome 4 in a patient with methylmalonic acidemia. 61
31793236 2020
17
Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria. 61
31969167 2020
18
Methylmalonic Acidemia Complicated by Homocystinuria Diseases: a Report of Three Cases. 61
31758516 2020
19
Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review. 61
31757659 2019
20
Methylmalonic and propionic acidemia among hospitalized pediatric patients: a nationwide report. 61
31842933 2019
21
Multi-omics studies in cellular models of methylmalonic acidemia and propionic acidemia reveal dysregulation of serine metabolism. 61
31449969 2019
22
Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria. 61
31648943 2019
23
[Clinical and variant analysis of 15 patients with methylmalonic acidemia]. 61
31813137 2019
24
Pregnancy outcomes of reciprocal translocation carriers with two or more unfavorable pregnancy histories: before and after preimplantation genetic testing. 61
31522368 2019
25
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry. 61
30734935 2019
26
Treatable cause of hereditary spastic paraplegia: eight cases of combined homocysteinaemia with methylmalonic aciduria. 61
31203424 2019
27
Rhabdomyolysis in organic acidemia patients manifesting with metabolic decompensation. 61
31476111 2019
28
A New Era for Rare Genetic Diseases: Messenger RNA Therapy. 61
31179759 2019
29
Prenatal diagnosis of methylmalonic aciduria from amniotic fluid using genetic and biochemical approaches. 61
31278756 2019
30
Perioperative characteristics and management of liver transplantation for isolated methylmalonic acidemia-the largest experience in China. 61
31673536 2019
31
Gene Therapy for Methylmalonic Acidemia: Past, Present, and Future. 61
31303064 2019
32
A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia. 61
31622506 2019
33
Long-term outcome of methylmalonic aciduria after kidney, liver or combined liver-kidney transplantation: the French experience. 61
31525265 2019
34
Ilex paraguariensis Attenuates Changes in Mortality, Behavioral and Biochemical Parameters Associated to Methyl Malonate or Malonate Exposure in Drosophila melanogaster. 61
31422521 2019
35
Isolated subacute combined degeneration in late-onset cobalamin C deficiency in children: Two case reports and literature review. 61
31574870 2019
36
[Analysis of inborn error metabolism in 277 children with autism spectrum disorders from Hainan]. 61
31515778 2019
37
Liver neoplasms in methylmalonic aciduria: An emerging complication. 61
31260114 2019
38
Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria. 61
31470807 2019
39
Novel HILIC-ESI-MS method for urinary profiling of MSUD and methylmalonic aciduria biomarkers. 61
31251316 2019
40
Differential Intraoperative Effect of Liver Transplant in Different Inborn Errors of Metabolism. 61
30964822 2019
41
Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism. 61
31451751 2019
42
Clinical presentation, molecular analysis and follow-up of patients with mut methylmalonic acidemia in Shandong province, China. 61
31466887 2019
43
[Clinical analysis of methylmalonic acidemia and hyperhomocysteinemia with diffuse lung disease as an initial or main presentation]. 61
31352748 2019
44
Optic neuropathy in classical methylmalonic acidemia. 61
31269850 2019
45
Noninvasive monitoring of chronic kidney disease using pH and perfusion imaging. 61
31453331 2019
46
[Construction of a mouse model of cblC type methylmalonic acidemia with W203X mutation based on the CRISPR/Cas9 technology]. 61
31416510 2019
47
Long-term efficacy and safety of mRNA therapy in two murine models of methylmalonic acidemia. 61
31303505 2019
48
The Value of 1H-MRS and MRI in Combined Methylmalonic Aciduria and Homocystinuria. 61
30839328 2019
49
Allosteric Regulation of Oligomerization by a B12 Trafficking G-Protein Is Corrupted in Methylmalonic Aciduria. 61
31056463 2019
50
[Kidney disease in cobalamin C deficiency]. 61
31130431 2019

Variations for Methylmalonic Acidemia

ClinVar genetic disease variations for Methylmalonic Acidemia:

6 (show top 50) (show all 280) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MMUT NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs)indel Pathogenic 222942 rs879253851 6:49399497-49399500 6:49431784-49431787
2 MMUT NM_000255.4(MMUT):c.278G>A (p.Arg93His)SNV Pathogenic 1880 rs121918251 6:49426902-49426902 6:49459189-49459189
3 MMUT NM_000255.4(MMUT):c.2150G>T (p.Gly717Val)SNV Pathogenic 1881 rs121918252 6:49399544-49399544 6:49431831-49431831
4 MMUT NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr)SNV Pathogenic 1886 rs121918256 6:49425502-49425502 6:49457789-49457789
5 MMAB NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)SNV Pathogenic 3095 rs28941784 12:109998873-109998873 12:109561068-109561068
6 MMUT NM_000255.4(MMUT):c.91C>T (p.Arg31Ter)SNV Pathogenic 92688 rs398123278 6:49427089-49427089 6:49459376-49459376
7 MMUT NM_000255.4(MMUT):c.323G>A (p.Arg108His)SNV Pathogenic 100707 rs483352778 6:49426857-49426857 6:49459144-49459144
8 MMAA NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)SNV Pathogenic 3160 rs104893851 4:146560724-146560724 4:145639572-145639572
9 MMAB NM_052845.4(MMAB):c.197-1G>TSNV Pathogenic 219008 rs763935916 12:110006669-110006669 12:109568864-109568864
10 MMUT NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp)SNV Pathogenic 218990 rs753288303 6:49419231-49419231 6:49451518-49451518
11 MMUT NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp)SNV Pathogenic 218996 rs777758903 6:49403213-49403213 6:49435500-49435500
12 MMAA NM_172250.3(MMAA):c.64C>T (p.Arg22Ter)SNV Pathogenic 218969 rs765799472 4:146560355-146560355 4:145639203-145639203
13 MMAB NM_052845.4(MMAB):c.700C>T (p.Gln234Ter)SNV Pathogenic 203820 rs369296618 12:109994886-109994886 12:109557081-109557081
14 MMUT NM_000255.4(MMUT):c.572C>A (p.Ala191Glu)SNV Pathogenic 203854 rs760782399 6:49425585-49425585 6:49457872-49457872
15 MMUT NM_000255.4(MMUT):c.753+2T>ASNV Pathogenic 203856 rs796052006 6:49425402-49425402 6:49457689-49457689
16 MMAA NM_172250.3(MMAA):c.593_596del (p.Thr198fs)deletion Pathogenic 203815 rs796051993 4:146567165-146567168 4:145646013-145646016
17 MMAA NM_172250.3(MMAA):c.742C>T (p.Gln248Ter)SNV Pathogenic 496554 rs757548934 4:146572222-146572222 4:145651070-145651070
18 MMUT NM_000255.4(MMUT):c.1025C>A (p.Ser342Ter)SNV Pathogenic 495777 rs770466993 6:49421356-49421356 6:49453643-49453643
19 MMUT NM_000255.4(MMUT):c.1083+2T>ASNV Pathogenic 495775 rs746085723 6:49421296-49421296 6:49453583-49453583
20 MMUT NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter)SNV Pathogenic 495778 rs774159791 6:49416574-49416574 6:49448861-49448861
21 MMUT NM_000255.4(MMUT):c.729_730insTT (p.Asp244fs)insertion Pathogenic 552079 rs780283588 6:49425427-49425428 6:49457714-49457715
22 MMUT NM_000255.4(MMUT):c.850G>T (p.Gly284Ter)SNV Pathogenic 553762 rs761477436 6:49423854-49423854 6:49456141-49456141
23 MMUT NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter)SNV Pathogenic 556124 rs761525156 6:49415412-49415412 6:49447699-49447699
24 MMUT NM_000255.4(MMUT):c.1022dup (p.Asn341fs)duplication Pathogenic 553958 rs752898811 6:49421358-49421359 6:49453645-49453646
25 MMUT NM_000255.4(MMUT):c.982C>T (p.Leu328Phe)SNV Pathogenic/Likely pathogenic 203844 rs796052002 6:49421399-49421399 6:49453686-49453686
26 MMAB NM_052845.4(MMAB):c.584G>A (p.Arg195His)SNV Likely pathogenic 218322 rs756195708 12:109998845-109998845 12:109561040-109561040
27 MMUT NM_000255.4(MMUT):c.753+1G>ASNV Likely pathogenic 633322 rs1028877309 6:49425403-49425403 6:49457690-49457690
28 MMAB NM_052845.4(MMAB):c.-9G>TSNV Conflicting interpretations of pathogenicity 307083 rs554831769 12:110011294-110011294 12:109573489-109573489
29 MMUT NM_000255.4(MMUT):c.1515T>C (p.Ile505=)SNV Conflicting interpretations of pathogenicity 357259 rs772936850 6:49415428-49415428 6:49447715-49447715
30 MMUT NM_000255.4(MMUT):c.1333-8C>TSNV Conflicting interpretations of pathogenicity 357260 rs199555550 6:49416648-49416648 6:49448935-49448935
31 MMUT NM_000255.4(MMUT):c.1991C>T (p.Ala664Val)SNV Conflicting interpretations of pathogenicity 357254 rs137958217 6:49403302-49403302 6:49435589-49435589
32 MMUT NM_000255.4(MMUT):c.1614C>T (p.Thr538=)SNV Conflicting interpretations of pathogenicity 357258 rs766999822 6:49412414-49412414 6:49444701-49444701
33 MMAB NM_052845.4(MMAB):c.732G>A (p.Ser244=)SNV Conflicting interpretations of pathogenicity 307075 rs186864802 12:109994854-109994854 12:109557049-109557049
34 MMAB NM_052845.4(MMAB):c.561C>T (p.Ala187=)SNV Conflicting interpretations of pathogenicity 307079 rs370773720 12:109998868-109998868 12:109561063-109561063
35 MMAB NM_052845.4(MMAB):c.644+7G>ASNV Conflicting interpretations of pathogenicity 307077 rs147637814 12:109996894-109996894 12:109559089-109559089
36 MMADHC NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser)SNV Conflicting interpretations of pathogenicity 218723 rs138607412 2:150427678-150427678 2:149571164-149571164
37 MMUT NM_000255.4(MMUT):c.393G>A (p.Gln131=)SNV Conflicting interpretations of pathogenicity 196239 rs145682249 6:49425764-49425764 6:49458051-49458051
38 MMUT NM_000255.4(MMUT):c.1629C>T (p.Ser543=)SNV Conflicting interpretations of pathogenicity 92682 rs150642856 6:49412399-49412399 6:49444686-49444686
39 MMADHC NM_015702.3(MMADHC):c.578T>C (p.Val193Ala)SNV Conflicting interpretations of pathogenicity 285847 rs147370143 2:150432256-150432256 2:149575742-149575742
40 MMAB NM_052845.4(MMAB):c.444G>A (p.Gly148=)SNV Conflicting interpretations of pathogenicity 287810 rs117269384 12:109999300-109999300 12:109561495-109561495
41 MMUT NM_000255.4(MMUT):c.1125G>A (p.Met375Ile)SNV Conflicting interpretations of pathogenicity 290321 rs148091558 6:49419386-49419386 6:49451673-49451673
42 MMADHC NM_015702.3(MMADHC):c.-60G>ASNV Conflicting interpretations of pathogenicity 331388 rs886054923 2:150444185-150444185 2:149587671-149587671
43 MMADHC NM_015702.3(MMADHC):c.-16A>GSNV Conflicting interpretations of pathogenicity 331385 rs144111552 2:150443627-150443627 2:149587113-149587113
44 MMADHC NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr)SNV Conflicting interpretations of pathogenicity 331377 rs147318949 2:150432319-150432319 2:149575805-149575805
45 MMADHC NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn)SNV Conflicting interpretations of pathogenicity 331383 rs61750442 2:150438708-150438708 2:149582194-149582194
46 MCEE NM_032601.4(MCEE):c.312T>G (p.Arg104=)SNV Conflicting interpretations of pathogenicity 336938 rs142838031 2:71351402-71351402 2:71124272-71124272
47 MMAA NM_172250.3(MMAA):c.597G>A (p.Glu199=)SNV Conflicting interpretations of pathogenicity 347600 rs116773849 4:146567172-146567172 4:145646020-145646020
48 MMAA NM_172250.3(MMAA):c.630A>G (p.Pro210=)SNV Conflicting interpretations of pathogenicity 347601 rs374347679 4:146567205-146567205 4:145646053-145646053
49 MMUT NM_000255.4(MMUT):c.1762C>T (p.Arg588Cys)SNV Conflicting interpretations of pathogenicity 357256 rs140727018 6:49409599-49409599 6:49441886-49441886
50 MMUT NM_000255.4(MMUT):c.1808+15T>CSNV Conflicting interpretations of pathogenicity 357255 rs369131814 6:49409538-49409538 6:49441825-49441825

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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.85 SUCLG1 PRODH PCCA MVK MTRR MTR
2
Show member pathways
13.54 PCCA MTRR MTR MMUT MMADHC MMACHC
3
Show member pathways
12.71 PCCA MMUT MMAA MCEE ACSF3
4
Show member pathways
12.46 PCCA MTRR MTR MMUT MMADHC MMACHC
5
Show member pathways
12.16 MTRR MTR MMUT MMAB MCEE
6
Show member pathways
12.13 SUCLG1 PCCA MTR MMUT MCEE
7
Show member pathways
11.85 PCCA MMUT MCEE ACSF3
8
Show member pathways
11.53 PCCA MTRR MTR MMUT MMADHC MMACHC
9
Show member pathways
11.49 PCCA MMUT MMAA MCEE
10 11.11 PCCA MMUT MCEE
11 11.09 SUCLG1 PCCA MMUT MCEE
12
Show member pathways
10.97 PCCA MCEE
13 10.93 MMACHC LMBRD1
14 10.6 MTRR MTR MMUT MMADHC MMACHC MMAB
15
Show member pathways
10.11 MMUT MMAA
16
Show member pathways
10.1 MTRR MTR

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 9.61 SUCLG1 PRODH PCCA MMUT MMADHC MMAB
2 mitochondrial matrix GO:0005759 9.23 SUCLG1 PRODH PCCA MMUT MMAB MMAA

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

# Name GO ID Score Top Affiliating Genes
1 methionine biosynthetic process GO:0009086 9.4 MTRR MTR
2 homocysteine metabolic process GO:0050667 9.37 MTRR MMUT
3 cobalamin biosynthetic process GO:0009236 9.33 MMACHC MMAB MMAA
4 cobalamin transport GO:0015889 9.32 LMBRD1 CD320
5 cobalamin metabolic process GO:0009235 9.28 MTRR MTR MMUT MMADHC MMACHC MMAB
6 sulfur amino acid metabolic process GO:0000096 9.26 MTRR MTR
7 short-chain fatty acid catabolic process GO:0019626 9.26 PCCA MMUT MMAA MCEE

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

# Name GO ID Score Top Affiliating Genes
1 ligase activity GO:0016874 9.43 SUCLG1 PCCA ACSF3
2 FAD binding GO:0071949 9.33 PRODH MTRR MMACHC
3 cobalamin binding GO:0031419 9.1 MTR MMUT MMACHC MMAB LMBRD1 CD320
4 cobalamin-transporting ATPase activity GO:0015420 8.96 LMBRD1 CD320

Sources for Methylmalonic Acidemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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