MCID: MTH008
MIFTS: 47

Methylmalonic Acidemia

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 77 54 26 30 6 15
Methylmalonic Aciduria 12 26 38 30 56
Mma 54 26
Isolated Methylmalonic Acidemia 26
Acidemia, Methylmalonic 54

Classifications:



External Ids:

Disease Ontology 12 DOID:14749
KEGG 38 H00174

Summaries for Methylmalonic Acidemia

NIH Rare Diseases : 54 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 Hydroxocobalamin 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 : 26 Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly. The effects of methylmalonic acidemia, which usually appear in early infancy, vary from mild to life-threatening. Affected infants can experience vomiting, dehydration, weak muscle tone (hypotonia), developmental delay, excessive tiredness (lethargy), an enlarged liver (hepatomegaly), and failure to gain weight and grow at the expected rate (failure to thrive). Long-term complications can include feeding problems, intellectual disability, chronic kidney disease, and inflammation of the pancreas (pancreatitis). Without treatment, this disorder can lead to coma and death in some cases.

Wikipedia : 77 Methylmalonic acidemia , also called methylmalonic aciduria,[help 1] is an autosomal recessivemetabolic... 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 135)
# Related Disease Score Top Affiliating Genes
1 methylmalonic acidemia with homocystinuria 34.6 MMACHC MMADHC
2 vitamin b12-responsive methylmalonic acidemia 34.3 MMAA MTR
3 isolated methylmalonic acidemia 34.2 MMAB MMUT
4 methylmalonic aciduria, cblb type 33.5 MMAA MMAB MVK
5 methylmalonic aciduria and homocystinuria, cblc type 33.1 MMACHC MMD MTR
6 succinate-coa ligase deficiency 32.1 SUCLA2 SUCLG1
7 transcobalamin ii deficiency 31.5 LMBRD1 MMAA MMADHC MMD MMUT MTR
8 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 31.2 LMBRD1 MCEE MMAA MMAB MMACHC MMADHC
9 homocystinuria 30.6 LMBRD1 MMACHC MMADHC MTR
10 megaloblastic anemia 30.3 LMBRD1 MMADHC MTR
11 mevalonic aciduria 30.3 MMAB MVK
12 mitochondrial dna depletion syndrome 29.5 SUCLA2 SUCLG1
13 methylmalonic acidemia and homocysteinemia, cblx type 12.7
14 methylmalonic acidemia due to transcobalamin receptor defect 12.5
15 mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.5
16 methylmalonic aciduria and homocystinuria, cbld type 12.4
17 methylmalonic aciduria, cbla type 12.3
18 methylmalonic acidemia with homocystinuria type cblj 12.3
19 mitochondrial dna depletion syndrome 5 12.3
20 suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.3
21 sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.2
22 homocystinuria without methylmalonic aciduria 12.2
23 methylmalonic aciduria and homocystinuria, cblf type 12.1
24 amyotrophy, monomelic 11.9
25 monoclonal mast cell activation syndrome 11.7
26 mitochondrial dna depletion syndrome 9 11.7
27 o'sullivan-mcleod syndrome 11.6
28 methylmalonic aciduria, transient, due to transcobalamin receptor defect 11.6
29 methylmalonyl-coa epimerase deficiency 11.4
30 striatonigral degeneration, infantile 11.4
31 methylmalonic aciduria and homocystinuria type cble 11.3
32 methylmalonic aciduria and homocystinuria type cblg 11.3
33 methylmalonyl-coenzyme a mutase deficiency 11.3
34 combined malonic and methylmalonic aciduria 11.3
35 methylmalonic aciduria and homocystinuria, cblj type 11.3
36 homocystinuria-megaloblastic anemia, cble complementation type 11.2
37 homocystinuria-megaloblastic anemia, cblg complementation type 11.2
38 mohr-tranebjaerg syndrome 11.2
39 propionic acidemia 10.6
40 homocysteinemia 10.4
41 diabetes mellitus, ketosis-prone 10.4
42 hyperglycemia 10.3
43 retinal degeneration 10.3
44 spasticity 10.2
45 hydrocephalus 10.2
46 renal tubular acidosis 10.2
47 pancytopenia 10.2
48 optic nerve disease 10.2
49 dystonia 10.2
50 neuropathy 10.2

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 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxocobalamin Approved Phase 3,Phase 2 13422-51-0 15589840 11953898
2
Metronidazole Approved Phase 3 443-48-1 4173
3
Methylcobalamin Approved, Experimental, Investigational Phase 3,Phase 2 13422-55-4
4
Biotin Approved, Investigational, Nutraceutical Phase 3 58-85-5 171548
5
Cyanocobalamin Approved, Nutraceutical Phase 3,Phase 2 68-19-9 44176380
6
Cobalamin Experimental Phase 3,Phase 2 13408-78-1 6857388
7 Vitamin B Complex Phase 3,Phase 2
8 Vitamin B 12 Phase 3,Phase 2
9 Vitamins Phase 3,Phase 2
10 Vitamin B12 Phase 3,Phase 2
11 Vitamin B7 Phase 3
12 carnitine Phase 3
13
carbamide peroxide Approved Phase 2 124-43-6
14
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
15
Ornithine Approved, Nutraceutical Phase 2 70-26-8, 3184-13-2 6262
16
Glutamic Acid Approved, Nutraceutical Phase 2 56-86-0 33032
17 Antioxidants Phase 2
18 Trace Elements Phase 2
19 Nutrients Phase 2
20 Micronutrients Phase 2
21 Hematinics Phase 2
22 Folate Phase 2
23 Ubiquinone Phase 2
24 Vitamin B9 Phase 2
25 Liver Extracts

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia Completed NCT02426775 Phase 3 Carglumic Acid
2 EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment Completed NCT01793090 Phase 2 Epi-743
3 Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants Completed NCT01624311 Phase 2
4 Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia Active, not recruiting NCT01599286 Phase 2 Carbaglu;Placebo;Standard of Care Treatment
5 Open Label Study of mRNA-3704 in Patients With Isolated Methylmalonic Acidemia Not yet recruiting NCT03810690 Phase 1, Phase 2
6 Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia Terminated NCT01597440 Phase 2 N-carbamylglutamate
7 Ataluren for Nonsense Mutation Methylmalonic Acidemia Terminated NCT01141075 Phase 2 Ataluren (PTC124)
8 Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate Withdrawn NCT01341379 Phase 2 N-carbamylglutamate
9 Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome Study Unknown status NCT01289158
10 Energy Metabolism in Branched-chain Organic Acidemias Completed NCT03917212
11 Clinical and Laboratory Study of Methylmalonic Acidemia Recruiting NCT00078078
12 "The MaP Study": Mapping the Patient Journey in MMA and PA Recruiting NCT03484767

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 30
2 Methylmalonic Aciduria 30

Anatomical Context for Methylmalonic Acidemia

MalaCards organs/tissues related to Methylmalonic Acidemia:

42
Liver, Kidney, Pancreas, Brain, Testes, Prostate, Globus Pallidus

Publications for Methylmalonic Acidemia

Articles related to Methylmalonic Acidemia:

(show top 50) (show all 526)
# Title Authors Year
1
Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort. ( 30740739 )
2019
2
The Value of 1H-MRS and MRI in Combined Methylmalonic Aciduria and Homocystinuria. ( 30839328 )
2019
3
Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups. ( 30940196 )
2019
4
The Value of Liver Transplantation for Methylmalonic Acidemia. ( 30949461 )
2019
5
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. ( 31023387 )
2019
6
Long-term effect of subthalamic and pallidal deep brain stimulation for status dystonicus in children with methylmalonic acidemia and GNAO1 mutation. ( 31076915 )
2019
7
Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations. ( 30712249 )
2019
8
Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newborns. ( 30448007 )
2019
9
Clinical Application of LC-MS/MS in the Follow-Up for Treatment of Children with Methylmalonic Aciduria. ( 31049874 )
2019
10
Allosteric Regulation of Oligomerization by a B12 Trafficking G-Protein Is Corrupted in Methylmalonic Aciduria. ( 31056463 )
2019
11
Acrodermatitis dysmetabolica as a sign of methylmalonic aciduria decompensation. ( 29881561 )
2018
12
A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia. ( 29510241 )
2018
13
Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome. ( 29294253 )
2018
14
Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report. ( 30103768 )
2018
15
Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria. ( 30157807 )
2018
16
Hydrocephalus in cblC type methylmalonic acidemia. ( 30564975 )
2018
17
Shunt surgery for early-onset severe hydrocephalus in methylmalonic acidemia: report on two cases and review of the literature. ( 29488077 )
2018
18
Management of adult-onset methylmalonic acidemia with hypotonia and acute respiratory failure: A case report. ( 29924026 )
2018
19
Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings. ( 29996803 )
2018
20
Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data. ( 30023298 )
2018
21
Methylmalonic acidemia: Current status and research priorities. ( 29862147 )
2018
22
Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations. ( 30728829 )
2018
23
FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia. ( 30518688 )
2018
24
Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia. ( 30209273 )
2018
25
Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia. ( 30157442 )
2018
26
Liver Transplantation for Propionic Acidemia and Methylmalonic Acidemia: Perioperative Management and Clinical Outcomes. ( 30080956 )
2018
27
Autozygosity mapping of methylmalonic acidemia associated genes by short tandem repeat markers facilitates the identification of five novel mutations in an Iranian patient cohort. ( 30022420 )
2018
28
Ammonia role in glial dysfunction in methylmalonic acidemia. ( 30008432 )
2018
29
Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type. ( 29660608 )
2018
30
Spectrum of bone marrow pathology and hematological abnormalities in methylmalonic acidemia. ( 29330964 )
2018
31
New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type. ( 29197662 )
2018
32
New in vitro model derived from brain-specific Mut-/- mice confirms cerebral ammonium accumulation in methylmalonic aciduria. ( 29934063 )
2018
33
Diagnostic dilemma of patients with methylmalonic aciduria: Experience from a tertiary care centre in Pakistan. ( 29808036 )
2018
34
Transcobalamin receptor defect: Identification of two new cases through positive newborn screening for propionic/methylmalonic aciduria and long-term outcome. ( 29663633 )
2018
35
Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients. ( 28327205 )
2017
36
Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia. ( 27748010 )
2017
37
Pulmonary artery hypertension in methylmalonic acidemia. ( 27804229 )
2017
38
Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia. ( 29262333 )
2017
39
Methylmalonic Acidemia with Novel MUT Gene Mutations. ( 29158924 )
2017
40
Mutation Analyses in Selected Exons of the MUT Gene in Indian Patients with Methylmalonic Acidemia. ( 28811685 )
2017
41
Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia. ( 28141776 )
2017
42
Renal Involvement in Methylmalonic Aciduria. ( 29270502 )
2017
43
Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria. ( 28497574 )
2017
44
Corrigendum to "Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations." [Mol. Genet. Metab. (Aug 2016); 118(4): 264-71]. ( 28284539 )
2017
45
Manic-depressive Psychosis as the Initial Symptom in Adult Siblings with Late-onset Combined Methylmalonic Aciduria and Homocystinemia, Cobalamin C Type. ( 28218226 )
2017
46
Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience. ( 27591164 )
2017
47
Juvenile gout in methylmalonic acidemia. ( 26952825 )
2016
48
Clinical presentation, gene analysis and outcomes in young patients with early-treated combined methylmalonic acidemia and homocysteinemia (cblC type) in Shandong province, China. ( 26563984 )
2016
49
Isolated methylmalonic acidemia with unusual presentation mimicking diabetic ketoacidosis. ( 26581066 )
2016
50
Isolated methylmalonic acidemia: a case report. ( 27492701 )
2016

Variations for Methylmalonic Acidemia

ClinVar genetic disease variations for Methylmalonic Acidemia:

6 (show top 50) (show all 532)
# Gene Variation Type Significance SNP ID Assembly Location
1 MMUT NM_000255.3(MMUT): c.655A> T (p.Asn219Tyr) single nucleotide variant Pathogenic rs121918256 GRCh37 Chromosome 6, 49425502: 49425502
2 MMUT NM_000255.3(MMUT): c.655A> T (p.Asn219Tyr) single nucleotide variant Pathogenic rs121918256 GRCh38 Chromosome 6, 49457789: 49457789
3 MMAB NM_052845.3(MMAB): c.556C> T (p.Arg186Trp) single nucleotide variant Pathogenic rs28941784 GRCh37 Chromosome 12, 109998873: 109998873
4 MMAB NM_052845.3(MMAB): c.556C> T (p.Arg186Trp) single nucleotide variant Pathogenic rs28941784 GRCh38 Chromosome 12, 109561068: 109561068
5 MMAA NM_172250.3(MMAA): c.433C> T (p.Arg145Ter) single nucleotide variant Pathogenic rs104893851 GRCh37 Chromosome 4, 146560724: 146560724
6 MMAA NM_172250.3(MMAA): c.433C> T (p.Arg145Ter) single nucleotide variant Pathogenic rs104893851 GRCh38 Chromosome 4, 145639572: 145639572
7 MMUT NM_000255.3(MMUT): c.1495G> A (p.Ala499Thr) single nucleotide variant Benign/Likely benign rs2229385 GRCh37 Chromosome 6, 49415448: 49415448
8 MMUT NM_000255.3(MMUT): c.1495G> A (p.Ala499Thr) single nucleotide variant Benign/Likely benign rs2229385 GRCh38 Chromosome 6, 49447735: 49447735
9 MMUT NM_000255.3(MMUT): c.1595G> A (p.Arg532His) single nucleotide variant Benign/Likely benign rs1141321 GRCh37 Chromosome 6, 49412433: 49412433
10 MMUT NM_000255.3(MMUT): c.1595G> A (p.Arg532His) single nucleotide variant Benign/Likely benign rs1141321 GRCh38 Chromosome 6, 49444720: 49444720
11 MMUT NM_000255.3(MMUT): c.1629C> T (p.Ser543=) single nucleotide variant Conflicting interpretations of pathogenicity rs150642856 GRCh37 Chromosome 6, 49412399: 49412399
12 MMUT NM_000255.3(MMUT): c.1629C> T (p.Ser543=) single nucleotide variant Conflicting interpretations of pathogenicity rs150642856 GRCh38 Chromosome 6, 49444686: 49444686
13 MMUT NM_000255.3(MMUT): c.2011A> G (p.Ile671Val) single nucleotide variant Benign rs8589 GRCh37 Chromosome 6, 49403282: 49403282
14 MMUT NM_000255.3(MMUT): c.2011A> G (p.Ile671Val) single nucleotide variant Benign rs8589 GRCh38 Chromosome 6, 49435569: 49435569
15 MMUT NM_000255.3(MMUT): c.636G> A (p.Lys212=) single nucleotide variant Benign rs2229384 GRCh37 Chromosome 6, 49425521: 49425521
16 MMUT NM_000255.3(MMUT): c.636G> A (p.Lys212=) single nucleotide variant Benign rs2229384 GRCh38 Chromosome 6, 49457808: 49457808
17 MMAB; MVK NM_052845.3(MMAB): c.288T> C (p.Ile96=) single nucleotide variant Benign/Likely benign rs62000414 GRCh37 Chromosome 12, 110006577: 110006577
18 MMAB; MVK NM_052845.3(MMAB): c.288T> C (p.Ile96=) single nucleotide variant Benign/Likely benign rs62000414 GRCh38 Chromosome 12, 109568772: 109568772
19 MMAB NM_052845.3(MMAB): c.716T> A (p.Met239Lys) single nucleotide variant Benign rs9593 GRCh37 Chromosome 12, 109994870: 109994870
20 MMAB NM_052845.3(MMAB): c.716T> A (p.Met239Lys) single nucleotide variant Benign rs9593 GRCh38 Chromosome 12, 109557065: 109557065
21 MMAA NM_172250.2(MMAA): c.1089G> C (p.Gln363His) single nucleotide variant Benign/Likely benign rs2270655 GRCh37 Chromosome 4, 146576418: 146576418
22 MMAA NM_172250.2(MMAA): c.1089G> C (p.Gln363His) single nucleotide variant Benign/Likely benign rs2270655 GRCh38 Chromosome 4, 145655266: 145655266
23 MMAB; MVK NM_000431.3(MVK): c.155G> A (p.Ser52Asn) single nucleotide variant Benign/Likely benign rs7957619 GRCh37 Chromosome 12, 110013879: 110013879
24 MMAB; MVK NM_000431.3(MVK): c.155G> A (p.Ser52Asn) single nucleotide variant Benign/Likely benign rs7957619 GRCh38 Chromosome 12, 109576074: 109576074
25 MCEE NM_032601.3(MCEE): c.227C> T (p.Ala76Val) single nucleotide variant Benign rs11541017 GRCh37 Chromosome 2, 71351487: 71351487
26 MCEE NM_032601.3(MCEE): c.227C> T (p.Ala76Val) single nucleotide variant Benign rs11541017 GRCh38 Chromosome 2, 71124357: 71124357
27 MCEE NM_032601.3(MCEE): c.311G> T (p.Arg104Leu) single nucleotide variant Benign/Likely benign rs6748672 GRCh37 Chromosome 2, 71351403: 71351403
28 MCEE NM_032601.3(MCEE): c.311G> T (p.Arg104Leu) single nucleotide variant Benign/Likely benign rs6748672 GRCh38 Chromosome 2, 71124273: 71124273
29 MMAA NM_172250.3(MMAA): c.-56A> G single nucleotide variant Benign/Likely benign rs4835011 GRCh37 Chromosome 4, 146560236: 146560236
30 MMAA NM_172250.3(MMAA): c.-56A> G single nucleotide variant Benign/Likely benign rs4835011 GRCh38 Chromosome 4, 145639084: 145639084
31 MMAA NM_172250.2(MMAA): c.747G> A (p.Ser249=) single nucleotide variant Benign/Likely benign rs11721553 GRCh37 Chromosome 4, 146572227: 146572227
32 MMAA NM_172250.2(MMAA): c.747G> A (p.Ser249=) single nucleotide variant Benign/Likely benign rs11721553 GRCh38 Chromosome 4, 145651075: 145651075
33 MMUT NM_000255.3(MMUT): c.393G> A (p.Gln131=) single nucleotide variant Conflicting interpretations of pathogenicity rs145682249 GRCh37 Chromosome 6, 49425764: 49425764
34 MMUT NM_000255.3(MMUT): c.393G> A (p.Gln131=) single nucleotide variant Conflicting interpretations of pathogenicity rs145682249 GRCh38 Chromosome 6, 49458051: 49458051
35 MMADHC NM_015702.2(MMADHC): c.453G> A (p.Gln151=) single nucleotide variant Benign rs11545261 GRCh38 Chromosome 2, 149576462: 149576462
36 MMADHC NM_015702.2(MMADHC): c.453G> A (p.Gln151=) single nucleotide variant Benign rs11545261 GRCh37 Chromosome 2, 150432976: 150432976
37 MMUT NM_000255.3(MMUT): c.982C> T (p.Leu328Phe) single nucleotide variant Pathogenic/Likely pathogenic rs796052002 GRCh37 Chromosome 6, 49421399: 49421399
38 MMUT NM_000255.3(MMUT): c.982C> T (p.Leu328Phe) single nucleotide variant Pathogenic/Likely pathogenic rs796052002 GRCh38 Chromosome 6, 49453686: 49453686
39 MMUT NM_000255.3(MMUT): c.711A> G (p.Pro237=) single nucleotide variant Conflicting interpretations of pathogenicity rs138085432 GRCh37 Chromosome 6, 49425446: 49425446
40 MMUT NM_000255.3(MMUT): c.711A> G (p.Pro237=) single nucleotide variant Conflicting interpretations of pathogenicity rs138085432 GRCh38 Chromosome 6, 49457733: 49457733
41 MMUT NM_000255.3(MMUT): c.572C> A (p.Ala191Glu) single nucleotide variant Pathogenic rs760782399 GRCh37 Chromosome 6, 49425585: 49425585
42 MMUT NM_000255.3(MMUT): c.572C> A (p.Ala191Glu) single nucleotide variant Pathogenic rs760782399 GRCh38 Chromosome 6, 49457872: 49457872
43 MMADHC NM_015702.2(MMADHC): c.617A> G (p.Asn206Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs138607412 GRCh37 Chromosome 2, 150427678: 150427678
44 MMADHC NM_015702.2(MMADHC): c.617A> G (p.Asn206Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs138607412 GRCh38 Chromosome 2, 149571164: 149571164
45 MMAA NM_172250.2(MMAA): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs765799472 GRCh38 Chromosome 4, 145639203: 145639203
46 MMAA NM_172250.2(MMAA): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs765799472 GRCh37 Chromosome 4, 146560355: 146560355
47 MMUT NM_000255.3(MMUT): c.2080C> T (p.Arg694Trp) single nucleotide variant Pathogenic rs777758903 GRCh38 Chromosome 6, 49435500: 49435500
48 MMUT NM_000255.3(MMUT): c.2080C> T (p.Arg694Trp) single nucleotide variant Pathogenic rs777758903 GRCh37 Chromosome 6, 49403213: 49403213
49 MMUT NM_000255.3(MMUT): c.1280G> A (p.Gly427Asp) single nucleotide variant Pathogenic rs753288303 GRCh38 Chromosome 6, 49451518: 49451518
50 MMUT NM_000255.3(MMUT): c.1280G> A (p.Gly427Asp) single nucleotide variant Pathogenic rs753288303 GRCh37 Chromosome 6, 49419231: 49419231

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:

38
# Name Kegg Source Accession
1 Valine, leucine and isoleucine degradation hsa00280

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.83 GPD2 LMBRD1 MCEE MMAA MMAB MMACHC
2
Show member pathways
12.65 GPD2 MCEE MMAA MMUT PCCA
3
Show member pathways
12.47 LMBRD1 MMAA MMAB MMACHC MMADHC MMUT
4
Show member pathways
12.12 MCEE MMUT MTR PCCA SUCLA2 SUCLG1
5
Show member pathways
12.09 MCEE MMAB MMUT MTR
6
Show member pathways
11.75 MCEE MMUT PCCA
7
Show member pathways
11.6 MMAA MMACHC MMADHC MMUT MTR PCCA
8
Show member pathways
11.52 MCEE MMAA MMUT PCCA
9 11.09 MCEE MMUT PCCA
10
Show member pathways
11.01 MCEE PCCA
11 10.9 LMBRD1 MMACHC
12 10.86 MCEE MMUT PCCA SUCLA2 SUCLG1
13
Show member pathways
10.83 SUCLA2 SUCLG1
14 10.49 LMBRD1 MMAA MMAB MMACHC MMADHC MMUT

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 GPD2 MCEE MMAA MMAB MMADHC MMUT
2 mitochondrial matrix GO:0005759 9.17 MCEE MMAA MMAB MMUT PCCA SUCLA2

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

# Name GO ID Score Top Affiliating Genes
1 tricarboxylic acid cycle GO:0006099 9.32 SUCLA2 SUCLG1
2 succinate metabolic process GO:0006105 9.26 SUCLA2 SUCLG1
3 cobalamin metabolic process GO:0009235 9.17 LMBRD1 MMAA MMAB MMACHC MMADHC MMUT
4 succinyl-CoA metabolic process GO:0006104 9.16 SUCLA2 SUCLG1
5 cobalamin biosynthetic process GO:0009236 9.13 MMAA MMAB MMACHC

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

# Name GO ID Score Top Affiliating Genes
1 ligase activity GO:0016874 9.33 PCCA SUCLA2 SUCLG1
2 cobalamin binding GO:0031419 9.02 LMBRD1 MMAB MMACHC MMUT MTR
3 succinate-CoA ligase (ADP-forming) activity GO:0004775 8.96 SUCLA2 SUCLG1

Sources for Methylmalonic Acidemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
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63 PubMed
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70 SNOMED-CT via HPO
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