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MMA
MCID: MTH008
MIFTS: 52

Methylmalonic Acidemia (MMA)

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Methylmalonic Acidemia

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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:

MalaCards categories:
Global: Rare diseases Metabolic diseases Genetic diseases
Anatomical: Endocrine diseases Liver diseases Blood diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:14749
KEGG 36 H00174
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Summaries for Methylmalonic Acidemia

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NIH Rare Diseases : 52 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. Methylmalonic acidemia is treated with a low-protein, high-calorie diet, certain medications, antibiotics and, in some cases, organ transplantation.

MalaCards based summary : Methylmalonic Acidemia, also known as methylmalonic aciduria, is related to methylmalonic acidemia with homocystinuria and vitamin b12-responsive 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 pancreas.

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...

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Related Diseases for Methylmalonic Acidemia

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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 333)
# Related Disease Score Top Affiliating Genes
1 methylmalonic acidemia with homocystinuria 35.3 MMADHC MMACHC
2 vitamin b12-responsive methylmalonic acidemia 35.0 MTR MMAA
3 isolated methylmalonic acidemia 34.5 MMUT MMADHC MMAB MMAA MCEE
4 methylmalonic aciduria and homocystinuria, cbld type 34.5 MMADHC CBL
5 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 34.4 MMUT MMACHC
6 methylmalonic aciduria, cbla type 34.2 MMUT MMADHC MMAB MMAA MCEE
7 methylmalonic aciduria, cblb type 34.1 MVK MTR MMUT MMAB MMAA MCEE
8 methylmalonic aciduria and homocystinuria, cblc type 33.9 MTR MMUT MMD MMADHC MMACHC MMAB
9 transcobalamin ii deficiency 33.2 MMADHC MMAA LMBRD1
10 methylmalonic aciduria and homocystinuria type cblg 32.8 MTRR MTR
11 methylmalonic aciduria and homocystinuria type cble 32.8 MTRR MTR
12 homocysteinemia 31.5 MTRR MTR MMACHC
13 homocystinuria 31.4 MTRR MTR MMUT MMADHC MMACHC LMBRD1
14 propionic acidemia 31.2 PCCA MMUT MMD MMADHC MMAB MMAA
15 isovaleric acidemia 31.1 MMUT MMD MMAA
16 disorders of intracellular cobalamin metabolism 30.9 MTRR MTR MMADHC-DT MMADHC MMACHC LMBRD1
17 seizure disorder 30.9 MTR CDKL5
18 megaloblastic anemia 30.8 MTRR MTR MMADHC LMBRD1 CD320 CBL
19 3-methylcrotonyl-coa carboxylase deficiency 30.7 MMD MMAA ACSF3
20 pernicious anemia 30.6 MTR MMD CBL
21 maple syrup urine disease 30.6 PRODH MMUT MMD MMAA
22 phenylketonuria 30.5 MVK MTRR MTR
23 ventricular septal defect 30.3 PRODH MTRR MTR
24 vitamin b12 deficiency 30.1 MTR MMUT MMD MMADHC MMACHC LMBRD1
25 organic acidemia 29.2 SUCLG1 PRODH PCCA MTRR MTR MMUT
26 methylmalonic acidemia and homocysteinemia, cblx type 13.0
27 methylmalonic acidemia due to transcobalamin receptor defect 12.7
28 mitochondrial dna depletion syndrome 5 12.6
29 suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.5
30 methylmalonic acidemia without homocystinuria 12.5
31 sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.5
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 methylmalonyl-coenzyme a mutase deficiency 11.7
39 mitochondrial dna depletion syndrome 11.7
40 methylmalonic aciduria, transient, due to transcobalamin receptor defect 11.7
41 methylmalonic aciduria and homocystinuria, cblj type 11.6
42 o'sullivan-mcleod syndrome 11.6
43 striatonigral degeneration, infantile 11.5
44 homocystinuria-megaloblastic anemia, cble complementation type 11.4
45 homocystinuria-megaloblastic anemia, cblg complementation type 11.4
46 mohr-tranebjaerg syndrome 11.4
47 carbonic anhydrase va deficiency, hyperammonemia due to 10.8
48 metabolic acidosis 10.8
49 inherited metabolic disorder 10.6
50 hypotonia 10.6

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



Diseases related to Methylmalonic Acidemia
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Symptoms & Phenotypes for Methylmalonic Acidemia

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Drugs & Therapeutics for Methylmalonic Acidemia

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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 3184-13-2, 70-26-8 6262
11
Glutamic acid Approved, Nutraceutical Phase 2 56-86-0 33032
12
Cobalamin Experimental Phase 2 13408-78-1 6857388
13 Vitamin B 12 Phase 2
14 Vitamins Phase 2
15 Vitamin B Complex Phase 2
16 Vitamin B12 Phase 2
17 Trace Elements Phase 2
18 Micronutrients Phase 2
19 Nutrients Phase 2
20 Folate Phase 2
21 Vitamin B9 Phase 2
22 Hematinics Phase 2
23 Antioxidants 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

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Genetic Tests for Methylmalonic Acidemia

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Genetic tests related to Methylmalonic Acidemia:

# Genetic test Affiliating Genes
1 Methylmalonic Acidemia 29
2 Methylmalonic Aciduria 29
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Anatomical Context for Methylmalonic Acidemia

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MalaCards organs/tissues related to Methylmalonic Acidemia:

40
Liver, Kidney, Pancreas, Brain, Testes, Cortex, Heart
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Publications for Methylmalonic Acidemia

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Articles related to Methylmalonic Acidemia:

(show top 50) (show all 1097)
# Title Authors PMID Year
1
Isolated Methylmalonic Acidemia 61 6
20301409 2005
2
Intrahepatic Administration of Human Liver Stem Cells in Infants with Inherited Neonatal-Onset Hyperammonemia: A Phase I Study. 61
31792768 2019
3
Multi-omics studies in cellular models of methylmalonic acidemia and propionic acidemia reveal dysregulation of serine metabolism. 61
31449969 2019
4
Methylmalonic and propionic acidemia among hospitalized pediatric patients: a nationwide report. 61
31842933 2019
5
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
31828787 2019
6
Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review. 61
31757659 2019
7
[Clinical and variant analysis of 15 patients with methylmalonic acidemia]. 61
31813137 2019
8
Segmental uniparental disomy of chromosome 4 in a patient with methylmalonic acidemia. 61
31793236 2019
9
Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria. 61
31648943 2019
10
Pregnancy outcomes of reciprocal translocation carriers with two or more unfavorable pregnancy histories: before and after preimplantation genetic testing. 61
31522368 2019
11
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
12
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 2019
13
Methylmalonic Acidemia Complicated by Homocystinuria Diseases: a Report of Three Cases. 61
31758516 2019
14
A New Era for Rare Genetic Diseases: Messenger RNA Therapy. 61
31179759 2019
15
Rhabdomyolysis in organic acidemia patients manifesting with metabolic decompensation. 61
31476111 2019
16
Treatable cause of hereditary spastic paraplegia: eight cases of combined homocysteinaemia with methylmalonic aciduria. 61
31203424 2019
17
Prenatal diagnosis of methylmalonic aciduria from amniotic fluid using genetic and biochemical approaches. 61
31278756 2019
18
Perioperative characteristics and management of liver transplantation for isolated methylmalonic acidemia-the largest experience in China. 61
31673536 2019
19
Gene Therapy for Methylmalonic Acidemia: Past, Present, and Future. 61
31303064 2019
20
A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia. 61
31622506 2019
21
Ilex paraguariensis Attenuates Changes in Mortality, Behavioral and Biochemical Parameters Associated to Methyl Malonate or Malonate Exposure in Drosophila melanogaster. 61
31422521 2019
22
Liver neoplasms in methylmalonic aciduria: An emerging complication. 61
31260114 2019
23
Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies. 61
31119742 2019
24
Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications. 61
31119747 2019
25
[Analysis of inborn error metabolism in 277 children with autism spectrum disorders from Hainan]. 61
31515778 2019
26
Isolated subacute combined degeneration in late-onset cobalamin C deficiency in children: Two case reports and literature review. 61
31574870 2019
27
Long-term outcome of methylmalonic aciduria after kidney, liver or combined liver-kidney transplantation: the French experience. 61
31525265 2019
28
[Clinical analysis of methylmalonic acidemia and hyperhomocysteinemia with diffuse lung disease as an initial or main presentation]. 61
31352748 2019
29
Differential Intraoperative Effect of Liver Transplant in Different Inborn Errors of Metabolism. 61
30964822 2019
30
Novel HILIC-ESI-MS method for urinary profiling of MSUD and methylmalonic aciduria biomarkers. 61
31251316 2019
31
Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism. 61
31451751 2019
32
Clinical presentation, molecular analysis and follow-up of patients with mut methylmalonic acidemia in Shandong province, China. 61
31466887 2019
33
Noninvasive monitoring of chronic kidney disease using pH and perfusion imaging. 61
31453331 2019
34
Optic neuropathy in classical methylmalonic acidemia. 61
31269850 2019
35
[Construction of a mouse model of cblC type methylmalonic acidemia with W203X mutation based on the CRISPR/Cas9 technology]. 61
31416510 2019
36
Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria. 61
31470807 2019
37
Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause. 61
31462756 2019
38
Long-term efficacy and safety of mRNA therapy in two murine models of methylmalonic acidemia. 61
31303505 2019
39
The Value of 1H-MRS and MRI in Combined Methylmalonic Aciduria and Homocystinuria. 61
30839328 2019
40
[Kidney disease in cobalamin C deficiency]. 61
31130431 2019
41
Allosteric Regulation of Oligomerization by a B12 Trafficking G-Protein Is Corrupted in Methylmalonic Aciduria. 61
31056463 2019
42
Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial. 61
31196016 2019
43
Prenatal Diagnosis of Organic Acidemias at a Tertiary Center. 61
31523617 2019
44
Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency. 61
30682498 2019
45
Primary Pulmonary Hypertension Associated with Asymptomatic Methylmalonic Aciduria in a Child. 61
31142418 2019
46
Long-term effect of subthalamic and pallidal deep brain stimulation for status dystonicus in children with methylmalonic acidemia and GNAO1 mutation. 61
31076915 2019
47
Clinical Application of LC-MS/MS in the Follow-Up for Treatment of Children with Methylmalonic Aciduria. 61
31049874 2019
48
MCEE Mutations in an Adult Patient with Parkinson's Disease, Dementia, Stroke and Elevated Levels of Methylmalonic Acid. 61
31146325 2019
49
Hydrocephalus in cblC type methylmalonic acidemia. 61
30564975 2019
50
Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency. 61
31023387 2019
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Variations for Methylmalonic Acidemia

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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.278G>A (p.Arg93His)SNV Pathogenic 1880 rs121918251 6:49426902-49426902 6:49459189-49459189
2 MMUT NM_000255.4(MMUT):c.2150G>T (p.Gly717Val)SNV Pathogenic 1881 rs121918252 6:49399544-49399544 6:49431831-49431831
3 MMUT NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr)SNV Pathogenic 1886 rs121918256 6:49425502-49425502 6:49457789-49457789
4 MMUT NM_000255.4(MMUT):c.91C>T (p.Arg31Ter)SNV Pathogenic 92688 rs398123278 6:49427089-49427089 6:49459376-49459376
5 MMUT NM_000255.4(MMUT):c.323G>A (p.Arg108His)SNV Pathogenic 100707 rs483352778 6:49426857-49426857 6:49459144-49459144
6 MMAB NM_052845.4(MMAB):c.197-1G>TSNV Pathogenic 219008 rs763935916 12:110006669-110006669 12:109568864-109568864
7 MMUT NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs)indel Pathogenic 222942 rs879253851 6:49399497-49399500 6:49431784-49431787
8 MMUT NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp)SNV Pathogenic 218990 rs753288303 6:49419231-49419231 6:49451518-49451518
9 MMUT NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp)SNV Pathogenic 218996 rs777758903 6:49403213-49403213 6:49435500-49435500
10 MMAA NM_172250.3(MMAA):c.64C>T (p.Arg22Ter)SNV Pathogenic 218969 rs765799472 4:146560355-146560355 4:145639203-145639203
11 MMAB NM_052845.4(MMAB):c.700C>T (p.Gln234Ter)SNV Pathogenic 203820 rs369296618 12:109994886-109994886 12:109557081-109557081
12 MMUT NM_000255.4(MMUT):c.572C>A (p.Ala191Glu)SNV Pathogenic 203854 rs760782399 6:49425585-49425585 6:49457872-49457872
13 MMUT NM_000255.4(MMUT):c.753+2T>ASNV Pathogenic 203856 rs796052006 6:49425402-49425402 6:49457689-49457689
14 MMAA NM_172250.3(MMAA):c.593_596del (p.Thr198fs)deletion Pathogenic 203815 rs796051993 4:146567168-146567171 4:145646016-145646019
15 MMAA NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)SNV Pathogenic 3160 rs104893851 4:146560724-146560724 4:145639572-145639572
16 MMAB NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)SNV Pathogenic 3095 rs28941784 12:109998873-109998873 12:109561068-109561068
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.1022dup (p.Asn341fs)duplication Pathogenic 553958 rs752898811 6:49421358-49421358 6:49453646-49453646
22 MMUT NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter)SNV Pathogenic 556124 rs761525156 6:49415412-49415412 6:49447699-49447699
23 MMUT NM_000255.4(MMUT):c.850G>T (p.Gly284Ter)SNV Pathogenic 553762 rs761477436 6:49423854-49423854 6:49456141-49456141
24 MMUT NM_000255.4(MMUT):c.729_730insTT (p.Asp244fs)insertion Pathogenic 552079 rs780283588 6:49425427-49425427 6:49457714-49457715
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.1808+15T>CSNV Conflicting interpretations of pathogenicity 357255 rs369131814 6:49409538-49409538 6:49441825-49441825
30 MMUT NM_000255.4(MMUT):c.1515T>C (p.Ile505=)SNV Conflicting interpretations of pathogenicity 357259 rs772936850 6:49415428-49415428 6:49447715-49447715
31 MMUT NM_000255.4(MMUT):c.1333-8C>TSNV Conflicting interpretations of pathogenicity 357260 rs199555550 6:49416648-49416648 6:49448935-49448935
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 MMADHC NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser)SNV Conflicting interpretations of pathogenicity 218723 rs138607412 2:150427678-150427678 2:149571164-149571164
35 MMUT NM_000255.4(MMUT):c.393G>A (p.Gln131=)SNV Conflicting interpretations of pathogenicity 196239 rs145682249 6:49425764-49425764 6:49458051-49458051
36 MMUT NM_000255.4(MMUT):c.1629C>T (p.Ser543=)SNV Conflicting interpretations of pathogenicity 92682 rs150642856 6:49412399-49412399 6:49444686-49444686
37 MMADHC NM_015702.3(MMADHC):c.578T>C (p.Val193Ala)SNV Conflicting interpretations of pathogenicity 285847 rs147370143 2:150432256-150432256 2:149575742-149575742
38 MMAB NM_052845.4(MMAB):c.444G>A (p.Gly148=)SNV Conflicting interpretations of pathogenicity 287810 rs117269384 12:109999300-109999300 12:109561495-109561495
39 MMUT NM_000255.4(MMUT):c.1125G>A (p.Met375Ile)SNV Conflicting interpretations of pathogenicity 290321 rs148091558 6:49419386-49419386 6:49451673-49451673
40 MMADHC NM_015702.3(MMADHC):c.-60G>ASNV Conflicting interpretations of pathogenicity 331388 rs886054923 2:150444185-150444185 2:149587671-149587671
41 MMADHC NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn)SNV Conflicting interpretations of pathogenicity 331383 rs61750442 2:150438708-150438708 2:149582194-149582194
42 MCEE NM_032601.4(MCEE):c.312T>G (p.Arg104=)SNV Conflicting interpretations of pathogenicity 336938 rs142838031 2:71351402-71351402 2:71124272-71124272
43 MMAA NM_172250.3(MMAA):c.597G>A (p.Glu199=)SNV Conflicting interpretations of pathogenicity 347600 rs116773849 4:146567172-146567172 4:145646020-145646020
44 MMAA NM_172250.3(MMAA):c.630A>G (p.Pro210=)SNV Conflicting interpretations of pathogenicity 347601 rs374347679 4:146567205-146567205 4:145646053-145646053
45 MMUT NM_000255.4(MMUT):c.711A>G (p.Pro237=)SNV Conflicting interpretations of pathogenicity 203843 rs138085432 6:49425446-49425446 6:49457733-49457733
46 MMADHC NM_015702.3(MMADHC):c.-16A>GSNV Conflicting interpretations of pathogenicity 331385 rs144111552 2:150443627-150443627 2:149587113-149587113
47 MMADHC NM_015702.3(MMADHC):c.244T>G (p.Cys82Gly)SNV Uncertain significance 331382 rs760590651 2:150436073-150436073 2:149579559-149579559
48 MMADHC NM_015702.3(MMADHC):c.*241A>GSNV Uncertain significance 331371 rs528409808 2:150426247-150426247 2:149569733-149569733
49 MMAA NM_172250.3(MMAA):c.*703C>TSNV Uncertain significance 347622 rs548243828 4:146577289-146577289 4:145656137-145656137
50 MMAA NM_172250.3(MMAA):c.*890G>ASNV Uncertain significance 347623 rs771012374 4:146577476-146577476 4:145656324-145656324
Sources

Expression for Methylmalonic Acidemia

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Search GEO for disease gene expression data for Methylmalonic Acidemia.
Sources

Pathways for Methylmalonic Acidemia

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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
Metabolism 65
Show member pathways
 13.85 SUCLG1 PRODH PCCA MVK MTRR MTR
2
HIV Life Cycle 65
Show member pathways
 13.54 PCCA MTRR MTR MMUT MMADHC MMACHC
3
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) 65
Show member pathways
 12.71 PCCA MMUT MMAA MCEE ACSF3
4
Metabolism of water-soluble vitamins and cofactors 65
Show member pathways
 12.46 PCCA MTRR MTR MMUT MMADHC MMACHC
5
Folate Metabolism 1
Show member pathways
 12.16 MTRR MTR MMUT MMAB MCEE
6
Carbon metabolism 36
Show member pathways
 12.13 SUCLG1 PCCA MTR MMUT MCEE
7
Valine, leucine and isoleucine degradation 36
Show member pathways
 11.85 PCCA MMUT MCEE ACSF3
8
Diseases of metabolism 65
Show member pathways
 11.53 PCCA MTRR MTR MMUT MMADHC MMACHC
9
Mitochondrial Fatty Acid Beta-Oxidation 65
Show member pathways
 11.49 PCCA MMUT MMAA MCEE
10
Glyoxylate and dicarboxylate metabolism 36
11.11 PCCA MMUT MCEE
11
Propanoate metabolism 36
11.09 SUCLG1 PCCA MMUT MCEE
12
superpathway of methionine degradation 1
Show member pathways
 10.97 PCCA MCEE
13
Vitamin digestion and absorption 36
10.93 MMACHC LMBRD1
14
Cobalamin (Cbl, vitamin B12) transport and metabolism 65
10.6 MTRR MTR MMUT MMADHC MMACHC MMAB
15
Defective MUT causes methylmalonic aciduria mut type 65
Show member pathways
 10.11 MMUT MMAA
16
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE 65
Show member pathways
 10.1 MTRR MTR
Sources

GO Terms for Methylmalonic Acidemia

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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

Sources for Methylmalonic Acidemia

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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