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MMA
MCID: MTH008
MIFTS: 50

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 75 53 25 29 6 15
Methylmalonic Aciduria 12 25 37 29 55
Mma 53 25
Isolated Methylmalonic Acidemia 25
Acidemia, Methylmalonic 53

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 37 H00174
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Summaries for Methylmalonic Acidemia

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NIH Rare Diseases : 53 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 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 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 : 37
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 : 75 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 332)
# Related Disease Score Top Affiliating Genes
1 methylmalonic acidemia with homocystinuria 35.0 MMADHC MMACHC
2 isolated methylmalonic acidemia 34.7 MMUT MMAB
3 vitamin b12-responsive methylmalonic acidemia 34.6 MTR MMAA
4 methylmalonic aciduria, cblb type 34.1 MVK MMAB MMAA
5 methylmalonic aciduria and homocystinuria, cblc type 33.5 MTR MMD MMACHC
6 transcobalamin ii deficiency 31.2 MTR MMUT MMD MMADHC MMAA LMBRD1
7 homocystinuria 30.7 MTR MMADHC MMACHC LMBRD1
8 organic acidemia 30.5 PCCA MMADHC MMACHC MMAB MMAA
9 seizure disorder 30.4 MTR CDKL5
10 megaloblastic anemia 30.4 MTR MMADHC LMBRD1
11 mevalonic aciduria 30.3 MVK MMAB
12 disorders of intracellular cobalamin metabolism 30.0 MTR MMADHC MMACHC LMBRD1 CCDC163
13 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 29.9 SUCLG1 MTR MMUT MMADHC MMACHC MMAB
14 childhood kidney cell carcinoma 29.4 TSC2 MMD
15 methylmalonic acidemia and homocysteinemia, cblx type 13.0
16 mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.8
17 methylmalonic acidemia due to transcobalamin receptor defect 12.7
18 methylmalonic aciduria and homocystinuria, cbld type 12.5
19 suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.5
20 mitochondrial dna depletion syndrome 5 12.5
21 methylmalonic acidemia without homocystinuria 12.5
22 sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.5
23 methylmalonic aciduria, cbla type 12.4
24 methylmalonic acidemia with homocystinuria type cblj 12.4
25 methylmalonic aciduria and homocystinuria, cblf type 12.2
26 combined malonic and methylmalonic aciduria 12.1
27 amyotrophy, monomelic 12.0
28 monoclonal mast cell activation syndrome 11.9
29 methylmalonyl-coa epimerase deficiency 11.9
30 mitochondrial dna depletion syndrome 9 11.8
31 methylmalonyl-coenzyme a mutase deficiency 11.7
32 methylmalonic aciduria, transient, due to transcobalamin receptor defect 11.7
33 o'sullivan-mcleod syndrome 11.6
34 striatonigral degeneration, infantile 11.5
35 methylmalonic aciduria and homocystinuria, cblj type 11.4
36 methylmalonic aciduria and homocystinuria type cble 11.4
37 methylmalonic aciduria and homocystinuria type cblg 11.4
38 homocystinuria-megaloblastic anemia, cble complementation type 11.4
39 homocystinuria-megaloblastic anemia, cblg complementation type 11.4
40 mohr-tranebjaerg syndrome 11.4
41 carbonic anhydrase va deficiency, hyperammonemia due to 10.8
42 metabolic acidosis 10.8
43 propionic acidemia 10.8
44 homocysteinemia 10.7
45 inherited metabolic disorder 10.6
46 hypotonia 10.6
47 autosomal recessive disease 10.5
48 hypoglycemia 10.5
49 dystonia 10.5
50 pancytopenia 10.4

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 28)
# 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 Anti-Bacterial Agents Phase 3
6 Antiparasitic Agents Phase 3
7 Antiprotozoal Agents Phase 3
8 Vitamin B7 Phase 3
9 Anti-Infective Agents Phase 3
10
Methylcobalamin Approved, Experimental, Investigational Phase 2 13422-55-4
11
Hydroxocobalamin Approved Phase 2 13422-51-0 11953898 15589840
12
Cyanocobalamin Approved, Nutraceutical Phase 2 68-19-9 44176380
13
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
14
Ornithine Approved, Nutraceutical Phase 2 70-26-8, 3184-13-2 6262
15
Glutamic acid Approved, Nutraceutical Phase 2 56-86-0 33032
16
Cobalamin Experimental Phase 2 13408-78-1 6857388
17 Vitamins Phase 2
18 Vitamin B 12 Phase 2
19 Vitamin B Complex Phase 2
20 Vitamin B12 Phase 2
21 Micronutrients Phase 2
22 Ubiquinone Phase 2
23 Trace Elements Phase 2
24 Antioxidants Phase 2
25 Vitamin B9 Phase 2
26 Hematinics Phase 2
27 Folate Phase 2
28 Nutrients Phase 2

Interventional clinical trials:

(show all 13)
# 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 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:

41
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 1074)
# Title Authors PMID Year
1
Isolated Methylmalonic Acidemia 38 71
20301409 2005
2
[Clinical analysis of methylmalonic acidemia and hyperhomocysteinemia with diffuse lung disease as an initial or main presentation]. 38
31352748 2019
3
Differential Intraoperative Effect of Liver Transplant in Different Inborn Errors of Metabolism. 38
30964822 2019
4
Gene Therapy for Methylmalonic Acidemia: Past, Present, and Future. 38
31303064 2019
5
[Construction of a mouse model of cblC type methylmalonic acidemia with W203X mutation based on the CRISPR/Cas9 technology]. 38
31416510 2019
6
Ilex paraguariensis Attenuates Changes in Mortality, Behavioral and Biochemical Parameters Associated to Methyl Malonate or Malonate Exposure in Drosophila melanogaster. 38
31422521 2019
7
Allosteric Regulation of Oligomerization by a B12 Trafficking G-Protein Is Corrupted in Methylmalonic Aciduria. 38
31056463 2019
8
Prenatal diagnosis of methylmalonic aciduria from amniotic fluid using genetic and biochemical approaches. 38
31278756 2019
9
Long-term efficacy and safety of mRNA therapy in two murine models of methylmalonic acidemia. 38
31303505 2019
10
Optic neuropathy in classical methylmalonic acidemia. 38
31269850 2019
11
The Value of 1H-MRS and MRI in Combined Methylmalonic Aciduria and Homocystinuria. 38
30839328 2019
12
Liver neoplasms in methylmalonic aciduria: An emerging complication. 38
31260114 2019
13
[Kidney disease in cobalamin C deficiency]. 38
31130431 2019
14
A New Era for Rare Genetic Diseases: Messenger RNA Therapy. 38
31179759 2019
15
Primary Pulmonary Hypertension Associated with Asymptomatic Methylmalonic Aciduria in a Child. 38
31142418 2019
16
Treatable cause of hereditary spastic paraplegia: eight cases of combined homocysteinaemia with methylmalonic aciduria. 38
31203424 2019
17
Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency. 38
30682498 2019
18
Novel HILIC-ESI-MS method for urinary profiling of MSUD and methylmalonic aciduria biomarkers. 38
31251316 2019
19
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. 38
31196016 2019
20
Long-term effect of subthalamic and pallidal deep brain stimulation for status dystonicus in children with methylmalonic acidemia and GNAO1 mutation. 38
31076915 2019
21
Clinical Application of LC-MS/MS in the Follow-Up for Treatment of Children with Methylmalonic Aciduria. 38
31049874 2019
22
MCEE Mutations in an Adult Patient with Parkinson's Disease, Dementia, Stroke and Elevated Levels of Methylmalonic Acid. 38
31146325 2019
23
Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications. 38
31119747 2019
24
Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies. 38
31119742 2019
25
Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups. 38
30940196 2019
26
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment. 38
30827756 2019
27
Continuous venovenous hemodiafiltration in the treatment of newborns with an inborn metabolic disease: a single center experience 38
31014046 2019
28
Hydrocephalus in cblC type methylmalonic acidemia. 38
30564975 2019
29
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. 38
31023387 2019
30
Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia. 38
30209273 2019
31
Successful liver transplantation using a whole liver graft with gallbladder agenesis: First report in pediatric liver transplantation. 38
30575232 2019
32
Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations. 38
30712249 2019
33
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. 38
30734935 2019
34
Age-Specific Cut-off Values of Amino Acids and Acylcarnitines for Diagnosis of Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry. 38
30723736 2019
35
A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism. 38
30612563 2019
36
Clinical feature and outcome of late-onset cobalamin C disease patients with neuropsychiatric presentations: a Chinese case series. 38
30863077 2019
37
Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort. 38
30740739 2019
38
Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newborns. 38
30448007 2019
39
Do not Miss Rare and Treatable Cause of Early-Onset Hemolytic Uremic Syndrome: Cobalamin C Deficiency. 38
31137025 2019
40
The Value of Liver Transplantation for Methylmalonic Acidemia. 38
30949461 2019
41
Cobalamin D Deficiency Identified Through Newborn Screening. 38
30097992 2019
42
Inherited selective cobalamin malabsorption in Komondor dogs associated with a CUBN splice site variant. 38
30591068 2018
43
Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium. 38
30613471 2018
44
FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia. 38
30518688 2018
45
Quantification of methylcitrate in dried urine spots by liquid chromatography tandem mass spectrometry for the diagnosis of propionic and methylmalonic acidemias. 38
30217751 2018
46
High Risk Stratified Neonatal Screening. 38
29542068 2018
47
The utility of EEG monitoring in neonates with hyperammonemia due to inborn errors of metabolism. 38
30197275 2018
48
Fibroblast growth factor 21 as a biomarker for long-term complications in organic acidemias. 38
30159853 2018
49
Differential response to renal replacement therapy in neonatal-onset inborn errors of metabolism. 38
29888426 2018
50
Propionate-induced changes in cardiac metabolism, notably CoA trapping, are not altered by l-carnitine. 38
30016154 2018
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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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MMUT NM_000255.4(MMUT): c.1025C> A (p.Ser342Ter) single nucleotide variant Pathogenic rs770466993 6:49421356-49421356 6:49453643-49453643
2 MMUT NM_000255.4(MMUT): c.1083+2T> A single nucleotide variant Pathogenic rs746085723 6:49421296-49421296 6:49453583-49453583
3 MMUT NM_000255.4(MMUT): c.1399C> T (p.Arg467Ter) single nucleotide variant Pathogenic rs774159791 6:49416574-49416574 6:49448861-49448861
4 MMAA NM_172250.3(MMAA): c.433C> T (p.Arg145Ter) single nucleotide variant Pathogenic rs104893851 4:146560724-146560724 4:145639572-145639572
5 MMUT NM_000255.4(MMUT): c.323G> A (p.Arg108His) single nucleotide variant Pathogenic rs483352778 6:49426857-49426857 6:49459144-49459144
6 MMUT NM_000255.4(MMUT): c.2194_2197delinsTGGAA (p.Ala732fs) indel Pathogenic rs879253851 6:49399497-49399500 6:49431784-49431787
7 MMAB NM_052845.4(MMAB): c.197-1G> T single nucleotide variant Pathogenic rs763935916 12:110006669-110006669 12:109568864-109568864
8 MMUT NM_000255.4(MMUT): c.1280G> A (p.Gly427Asp) single nucleotide variant Pathogenic rs753288303 6:49419231-49419231 6:49451518-49451518
9 MMUT NM_000255.4(MMUT): c.2080C> T (p.Arg694Trp) single nucleotide variant Pathogenic rs777758903 6:49403213-49403213 6:49435500-49435500
10 MMAA NM_172250.3(MMAA): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs765799472 4:146560355-146560355 4:145639203-145639203
11 MMAB NM_052845.4(MMAB): c.700C> T (p.Gln234Ter) single nucleotide variant Pathogenic rs369296618 12:109994886-109994886 12:109557081-109557081
12 MMUT NM_000255.4(MMUT): c.572C> A (p.Ala191Glu) single nucleotide variant Pathogenic rs760782399 6:49425585-49425585 6:49457872-49457872
13 MMAA NM_172250.3(MMAA): c.593_596del (p.Thr198fs) deletion Pathogenic rs796051993 4:146567168-146567171 4:145646016-145646019
14 MMAB NM_052845.4(MMAB): c.556C> T (p.Arg186Trp) single nucleotide variant Pathogenic rs28941784 12:109998873-109998873 12:109561068-109561068
15 MMUT NM_000255.4(MMUT): c.655A> T (p.Asn219Tyr) single nucleotide variant Pathogenic rs121918256 6:49425502-49425502 6:49457789-49457789
16 MMUT NM_000255.4(MMUT): c.2150G> T (p.Gly717Val) single nucleotide variant Pathogenic rs121918252 6:49399544-49399544 6:49431831-49431831
17 MMUT NM_000255.4(MMUT): c.278G> A (p.Arg93His) single nucleotide variant Pathogenic rs121918251 6:49426902-49426902 6:49459189-49459189
18 MMUT NM_000255.4(MMUT): c.1022dup (p.Asn341fs) duplication Pathogenic rs752898811 6:49421358-49421358 6:49453646-49453646
19 MMUT NM_000255.4(MMUT): c.1531C> T (p.Arg511Ter) single nucleotide variant Pathogenic rs761525156 6:49415412-49415412 6:49447699-49447699
20 MMUT NM_000255.4(MMUT): c.850G> T (p.Gly284Ter) single nucleotide variant Pathogenic rs761477436 6:49423854-49423854 6:49456141-49456141
21 MMUT NM_000255.4(MMUT): c.729_730insTT (p.Asp244fs) insertion Pathogenic rs780283588 6:49425427-49425427 6:49457714-49457715
22 MMAA NM_172250.3(MMAA): c.742C> T (p.Gln248Ter) single nucleotide variant Pathogenic rs757548934 4:146572222-146572222 4:145651070-145651070
23 MMUT NM_000255.4(MMUT): c.753+2T> A single nucleotide variant Pathogenic rs796052006 6:49425402-49425402 6:49457689-49457689
24 MMUT NM_000255.4(MMUT): c.91C> T (p.Arg31Ter) single nucleotide variant Pathogenic rs398123278 6:49427089-49427089 6:49459376-49459376
25 MMUT NM_000255.4(MMUT): c.982C> T (p.Leu328Phe) single nucleotide variant Pathogenic/Likely pathogenic rs796052002 6:49421399-49421399 6:49453686-49453686
26 MMUT NM_000255.4(MMUT): c.753+1G> A single nucleotide variant Likely pathogenic 6:49425403-49425403 6:49457690-49457690
27 MMAB NM_052845.3(MMAB): c.520_584del65 single nucleotide variant Likely pathogenic rs756195708 12:109998845-109998845 12:109561040-109561040
28 MMUT NM_000255.4(MMUT): c.711A> G (p.Pro237=) single nucleotide variant Conflicting interpretations of pathogenicity rs138085432 6:49425446-49425446 6:49457733-49457733
29 MMADHC NM_015702.3(MMADHC): c.617A> G (p.Asn206Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs138607412 2:150427678-150427678 2:149571164-149571164
30 MMAB NM_052845.4(MMAB): c.444G> A (p.Gly148=) single nucleotide variant Conflicting interpretations of pathogenicity rs117269384 12:109999300-109999300 12:109561495-109561495
31 MMADHC NM_015702.3(MMADHC): c.578T> C (p.Val193Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs147370143 2:150432256-150432256 2:149575742-149575742
32 MMAB NM_052845.4(MMAB): c.-9G> T single nucleotide variant Conflicting interpretations of pathogenicity rs554831769 12:110011294-110011294 12:109573489-109573489
33 MMUT NM_000255.4(MMUT): c.1629C> T (p.Ser543=) single nucleotide variant Conflicting interpretations of pathogenicity rs150642856 6:49412399-49412399 6:49444686-49444686
34 MMUT NM_000255.4(MMUT): c.393G> A (p.Gln131=) single nucleotide variant Conflicting interpretations of pathogenicity rs145682249 6:49425764-49425764 6:49458051-49458051
35 MCEE NM_032601.4(MCEE): c.312T> G (p.Arg104=) single nucleotide variant Conflicting interpretations of pathogenicity rs142838031 2:71351402-71351402 2:71124272-71124272
36 MMAB NM_052845.4(MMAB): c.732G> A (p.Ser244=) single nucleotide variant Conflicting interpretations of pathogenicity rs186864802 12:109994854-109994854 12:109557049-109557049
37 MMUT NM_000255.4(MMUT): c.1614C> T (p.Thr538=) single nucleotide variant Conflicting interpretations of pathogenicity rs766999822 6:49412414-49412414 6:49444701-49444701
38 MMUT NM_000255.4(MMUT): c.1515T> C (p.Ile505=) single nucleotide variant Conflicting interpretations of pathogenicity rs772936850 6:49415428-49415428 6:49447715-49447715
39 MMUT NM_000255.4(MMUT): c.1808+15T> C single nucleotide variant Conflicting interpretations of pathogenicity rs369131814 6:49409538-49409538 6:49441825-49441825
40 MMAA NM_172250.3(MMAA): c.630A> G (p.Pro210=) single nucleotide variant Conflicting interpretations of pathogenicity rs374347679 4:146567205-146567205 4:145646053-145646053
41 MMAA NM_172250.3(MMAA): c.597G> A (p.Glu199=) single nucleotide variant Conflicting interpretations of pathogenicity rs116773849 4:146567172-146567172 4:145646020-145646020
42 MMADHC NM_015702.3(MMADHC): c.87A> C (p.Lys29Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs61750442 2:150438708-150438708 2:149582194-149582194
43 MMADHC NM_015702.3(MMADHC): c.-16A> G single nucleotide variant Conflicting interpretations of pathogenicity rs144111552 2:150443627-150443627 2:149587113-149587113
44 MMUT NM_000255.4(MMUT): c.1125G> A (p.Met375Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs148091558 6:49419386-49419386 6:49451673-49451673
45 MMUT NM_000255.4(MMUT): c.1115T> C (p.Ile372Thr) single nucleotide variant Uncertain significance rs150968643 6:49419396-49419396 6:49451683-49451683
46 MMADHC NM_015702.3(MMADHC): c.244T> G (p.Cys82Gly) single nucleotide variant Uncertain significance rs760590651 2:150436073-150436073 2:149579559-149579559
47 MMADHC NM_015702.3(MMADHC): c.*241A> G single nucleotide variant Uncertain significance rs528409808 2:150426247-150426247 2:149569733-149569733
48 MMADHC NM_015702.3(MMADHC): c.-62G> A single nucleotide variant Uncertain significance rs886054924 2:150444187-150444187 2:149587673-149587673
49 MMAA NM_172250.3(MMAA): c.383T> C (p.Leu128Pro) single nucleotide variant Uncertain significance rs560188002 4:146560674-146560674 4:145639522-145639522
50 MMAA NM_172250.3(MMAA): c.128C> T (p.Pro43Leu) single nucleotide variant Uncertain significance rs886059088 4:146560419-146560419 4:145639267-145639267
Sources

Expression for Methylmalonic Acidemia

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

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Pathways related to Methylmalonic Acidemia according to KEGG:

37
# Name Kegg Source Accession
1 Valine, leucine and isoleucine degradation hsa00280

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.78 SUCLG1 PCCA MVK MTR MMUT MMADHC
2
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) 66
Show member pathways
 12.73 PCCA MMUT MMAA MCEE GPD2 ACSF3
3
Metabolism of water-soluble vitamins and cofactors 66
Show member pathways
 12.36 PCCA MTR MMUT MMADHC MMACHC MMAB
4
Selenium Micronutrient Network 1
Show member pathways
 12.13 MTR MMUT MMAB MCEE
5
Carbon metabolism 37
Show member pathways
 12.13 SUCLG1 PCCA MTR MMUT MCEE
6
Valine, leucine and isoleucine degradation 37
Show member pathways
 11.81 PCCA MMUT MCEE ACSF3
7
Mitochondrial Fatty Acid Beta-Oxidation 66
Show member pathways
 11.49 PCCA MMUT MMAA MCEE
8
Diseases of metabolism 66
Show member pathways
 11.4 PCCA MTR MMUT MMADHC MMACHC MMAA
9
Glyoxylate and dicarboxylate metabolism 37
11.11 PCCA MMUT MCEE
10
Propanoate metabolism 37
11.09 SUCLG1 PCCA MMUT MCEE
11
superpathway of methionine degradation 1
Show member pathways
 10.94 PCCA MCEE
12
Vitamin digestion and absorption 37
10.89 MMACHC LMBRD1
13
Cobalamin (Cbl, vitamin B12) transport and metabolism 66
10.49 MTR MMUT MMADHC MMACHC MMAB MMAA
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 PCCA MMUT MMADHC MMAB MMAA
2 mitochondrial matrix GO:0005759 9.17 SUCLG1 PCCA MMUT MMAB MMAA MCEE

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

# Name GO ID Score Top Affiliating Genes
1 cobalamin metabolic process GO:0009235 9.17 MTR MMUT MMADHC MMACHC MMAB MMAA
2 cobalamin biosynthetic process GO:0009236 9.13 MMACHC MMAB MMAA

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

# Name GO ID Score Top Affiliating Genes
1 ligase activity GO:0016874 9.13 SUCLG1 PCCA ACSF3
2 cobalamin binding GO:0031419 9.02 MTR MMUT MMACHC MMAB LMBRD1
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 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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