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MMA
MCID: MTH008
MIFTS: 50

Methylmalonic Acidemia (MMA)

Categories: Blood diseases, Endocrine 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 6
Mma 52 25
Isolated Methylmalonic Acidemia 25
Acidemia, Methylmalonic 52

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic 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 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 Metronidazole and carbamide peroxide 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 331)
# Related Disease Score Top Affiliating Genes
1 methylmalonic acidemia with homocystinuria 35.1 MMADHC-DT MMADHC MMACHC ABCD4
2 isolated methylmalonic acidemia 34.6 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 MMD MMADHC MMAB MMAA MCEE
5 methylmalonic aciduria, cblb type 34.0 MVK MTR MMUT MMACHC MMAB MMAA
6 methylmalonic aciduria and homocystinuria, cblc type 34.0 MTR MMUT MMD MMADHC MMACHC MMAA
7 methylmalonic aciduria and homocystinuria, cbld type 34.0 MMADHC CBL
8 combined malonic and methylmalonic aciduria 33.8 MMD MMADHC MMAB MMAA
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 30.9 MTRR MTR MMUT MMD MMADHC MMACHC
14 isovaleric acidemia 30.9 PCCB MMUT MMD MMAA
15 disorders of intracellular cobalamin metabolism 30.8 MTRR MTR MMADHC-DT MMADHC MMACHC LMBRD1
16 propionic acidemia 30.8 PCCB PCCA MMUT MMD MMADHC MMACHC
17 megaloblastic anemia 30.8 MTRR MTR MMADHC LMBRD1 CD320 CBL
18 maple syrup urine disease 30.8 PCCB MMUT MMD MMAA
19 3-methylcrotonyl-coa carboxylase deficiency 30.6 PCCB MMD MMAA
20 pernicious anemia 30.6 MTR MMD CBL
21 multiple carboxylase deficiency 30.5 PCCB PCCA MMD
22 phenylketonuria 30.5 MVK MTRR MTR
23 alpha-methylacetoacetic aciduria 30.4 MMD MMACHC
24 vitamin b12 deficiency 29.8 MTRR MTR MMUT MMD MMADHC MMACHC
25 organic acidemia 29.7 SUCLG1 PCCB PCCA MTR MMUT MMD
26 methylmalonic acidemia and homocysteinemia, cblx type 12.8
27 methylmalonic acidemia due to transcobalamin receptor defect 12.7
28 mitochondrial dna depletion syndrome 5 12.6
29 methylmalonic acidemia without homocystinuria 12.6
30 suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.6
31 sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.5
32 adenosylcobalamin deficiency 12.3
33 methylmalonic aciduria and homocystinuria, cblf type 12.2
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 methylmalonic aciduria and homocystinuria, cblj type 11.7
39 mitochondrial dna depletion syndrome 11.7
40 methylmalonic aciduria, transient, due to transcobalamin receptor defect 11.7
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 motor neuron disease 11.1
47 metabolic acidosis 10.8
48 carbonic anhydrase va deficiency, hyperammonemia due to 10.8
49 hypotonia 10.6
50 inherited metabolic disorder 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 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metronidazole Approved Phase 3 443-48-1 4173
2
carbamide peroxide Approved Phase 2, Phase 3 124-43-6
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 15589840 11953898
8
Cyanocobalamin Approved, Nutraceutical Phase 2 68-19-9 44176380
9
Ornithine Approved, Nutraceutical Phase 2 70-26-8, 3184-13-2 6262
10
Glutamic acid Approved, Nutraceutical Phase 2 56-86-0 33032
11
Cobalamin Experimental Phase 2 13408-78-1 6857388
12 Vitamin B 12 Phase 2
13 Vitamin B12 Phase 2
14 Antioxidants Phase 2
15 Vitamins
16 Vitamin B Complex

Interventional clinical trials:

(show all 15)
# 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 Active, not recruiting 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 Active, not 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
15 Evaluate the Long Term Effectiveness & Safety of the Use of Carglumic Acid (Carbaglu®) in Patients With Propionic Acidemia (PA) or Methylmalonic Acidemia (MMA). Enrolling by invitation NCT04284917 Carglumic Acid (Carbaglu®)

Search NIH Clinical Center for Methylmalonic Acidemia

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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 1138)
# 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? 52 61
31828787 2020
3
Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies. 52 61
31119742 2019
4
Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications. 52 61
31119747 2019
5
Methylmalonic acidemia: Current status and research priorities. 52 61
29862147 2018
6
Methylmalonic and propionic acidemias: clinical management update. 52 61
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
Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes. 61
32451238 2020
9
Rapid screening of MMACHC gene mutations by high-resolution melting curve analysis. 61
32198913 2020
10
Cobalamin C deficiency presenting with diffuse alveolar hemorrhage and pulmonary microangiopathy. 61
32293809 2020
11
[The phenotypes and genotypes in 314 patients with isolated methylmalonic acidemia]. 61
32521958 2020
12
Factors influencing in-hospital death for pediatric patients with isolated methylmalonic acidemia: a nationwide inpatient database analysis. 61
32560656 2020
13
Methylmalonyl acidemia: from mitochondrial metabolism to defective mitophagy and disease. 61
32316822 2020
14
Correction: Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause. 61
32483295 2020
15
A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia. 61
31622506 2020
16
Pulmonary hypertension in late-onset Methylmalonic Aciduria and Homocystinemia: a case report. 61
32443968 2020
17
A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy. 61
32443888 2020
18
Post-transplantation Outcomes in Patients with PA or MMA: A Review of the Literature. 61
32270363 2020
19
Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing. 61
32304307 2020
20
Etiology of liver dysfunction after liver transplantation in children with metabolic disorders. 61
31957215 2020
21
Mitochondria, mitophagy, and metabolic disease: towards assembling the puzzle. 61
32548571 2020
22
Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promise. 61
32412122 2020
23
The human B12 trafficking protein CblC processes nitrocobalamin. 61
32457044 2020
24
Clinical presentation, molecular analysis and follow-up of patients with mut methylmalonic acidemia in Shandong province, China. 61
31466887 2020
25
Brain Circuit Alterations and Cognitive Disability in Late-Onset Cobalamin D Disorder. 61
32252256 2020
26
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
27
Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach. 61
32143654 2020
28
Cobalamin c deficiency associated with antifactor h antibody-associated hemolytic uremic syndrome in a young adult. 61
32164588 2020
29
The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology. 61
32186706 2020
30
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
31
1H-NMR based metabolomic profiling of cord blood in gestational hypothyroidism. 61
32355740 2020
32
Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations. 61
31921599 2020
33
Cardiometabolic risk factor clustering in patients with deficient branched-chain amino acid catabolism: A case-control study. 61
32118306 2020
34
Metabolic and genetic assessments interpret unexplained aggressive pulmonary hypertension induced by methylmalonic acidemia: A case report. 61
32258084 2020
35
Generation of a Human iPSC line (SDQLCHi021-A) from a patient with methylmalonic acidemia cblC type carrying compound heterozygous mutations in MMAHC gene. 61
32058304 2020
36
Reducing False-Positive Results in Newborn Screening Using Machine Learning. 61
32190768 2020
37
Ethnic variability in newborn metabolic screening markers associated with false-positive outcomes. 61
32216101 2020
38
A Single-Column Gas Chromatography Method for Quantifying Toxic Alcohols. 61
32445388 2020
39
Long-term outcome of methylmalonic aciduria after kidney, liver, or combined liver-kidney transplantation: The French experience. 61
31525265 2020
40
Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene. 61
32013889 2020
41
Impact on Isoleucine and Valine Supplementation When Decreasing Use of Medical Food in the Nutritional Management of Methylmalonic Acidemia. 61
32069872 2020
42
Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency. 61
32080200 2020
43
Continuous venovenous hemodiafiltration in the treatment of newborns with an inborn metabolic disease: a single center experience 61
31014046 2020
44
Intrahepatic Administration of Human Liver Stem Cells in Infants with Inherited Neonatal-Onset Hyperammonemia: A Phase I Study. 61
31792768 2020
45
Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause. 61
31462756 2020
46
[Analysis of 12 cases with methylmalonicacidemia cblA type]. 61
32034731 2020
47
High-dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency. 61
32071835 2020
48
Methylmalonic Acidemia Complicated by Homocystinuria Diseases: a Report of Three Cases. 61
31758516 2020
49
Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria. 61
31969167 2020
50
Neurotoxicity including posterior reversible encephalopathy syndrome after initiation of calcineurin inhibitors in transplanted methylmalonic acidemia patients: Two case reports and review of the literature. 61
32071844 2020
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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 79) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MMAA NM_172250.3(MMAA):c.742C>T (p.Gln248Ter)SNV Pathogenic 496554 rs757548934 4:146572222-146572222 4:145651070-145651070
2 MMUT NM_000255.4(MMUT):c.1025C>A (p.Ser342Ter)SNV Pathogenic 495777 rs770466993 6:49421356-49421356 6:49453643-49453643
3 MMUT NM_000255.4(MMUT):c.1083+2T>ASNV Pathogenic 495775 rs746085723 6:49421296-49421296 6:49453583-49453583
4 MMUT NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter)SNV Pathogenic 495778 rs774159791 6:49416574-49416574 6:49448861-49448861
5 MMUT NM_000255.4(MMUT):c.278G>A (p.Arg93His)SNV Pathogenic 1880 rs121918251 6:49426902-49426902 6:49459189-49459189
6 MMUT NM_000255.4(MMUT):c.2150G>T (p.Gly717Val)SNV Pathogenic 1881 rs121918252 6:49399544-49399544 6:49431831-49431831
7 MMUT NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr)SNV Pathogenic 1886 rs121918256 6:49425502-49425502 6:49457789-49457789
8 MMAA NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)SNV Pathogenic 3160 rs104893851 4:146560724-146560724 4:145639572-145639572
9 MMUT NM_000255.4(MMUT):c.91C>T (p.Arg31Ter)SNV Pathogenic 92688 rs398123278 6:49427089-49427089 6:49459376-49459376
10 MMAA NM_172250.3(MMAA):c.64C>T (p.Arg22Ter)SNV Pathogenic 218969 rs765799472 4:146560355-146560355 4:145639203-145639203
11 MMUT NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp)SNV Pathogenic 218996 rs777758903 6:49403213-49403213 6:49435500-49435500
12 MMUT NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp)SNV Pathogenic 218990 rs753288303 6:49419231-49419231 6:49451518-49451518
13 MMAB NM_052845.4(MMAB):c.197-1G>TSNV Pathogenic 219008 rs763935916 12:110006669-110006669 12:109568864-109568864
14 MMUT NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs)indel Pathogenic 222942 rs879253851 6:49399497-49399500 6:49431784-49431787
15 MMUT NM_000255.4(MMUT):c.323G>A (p.Arg108His)SNV Pathogenic 100707 rs483352778 6:49426857-49426857 6:49459144-49459144
16 MMAB NM_052845.4(MMAB):c.700C>T (p.Gln234Ter)SNV Pathogenic 203820 rs369296618 12:109994886-109994886 12:109557081-109557081
17 MMUT NM_000255.4(MMUT):c.572C>A (p.Ala191Glu)SNV Pathogenic 203854 rs760782399 6:49425585-49425585 6:49457872-49457872
18 MMUT NM_000255.4(MMUT):c.753+2T>ASNV Pathogenic 203856 rs796052006 6:49425402-49425402 6:49457689-49457689
19 MMAA NM_172250.3(MMAA):c.593_596del (p.Thr198fs)deletion Pathogenic 203815 rs796051993 4:146567165-146567168 4:145646013-145646016
20 MMAB NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)SNV Pathogenic 3095 rs28941784 12:109998873-109998873 12:109561068-109561068
21 MMUT NM_000255.4(MMUT):c.1022dup (p.Asn341fs)duplication Pathogenic 553958 rs752898811 6:49421358-49421359 6:49453645-49453646
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 6:49425427-49425428 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 MMAB NM_052845.4(MMAB):c.*1577_*1578deldeletion Uncertain significance 307031 rs34507867 12:109993255-109993256 12:109555450-109555451
30 MMAB NM_052845.4(MMAB):c.*380_*381AG[5]short repeat Uncertain significance 307058 rs370296168 12:109994445-109994446 12:109556640-109556641
31 MMAB NM_052845.4(MMAB):c.*336_*337TG[24]short repeat Uncertain significance 307062 rs67024670 12:109994453-109994454 12:109556648-109556649
32 MMUT NM_000255.4(MMUT):c.*162A>CSNV Uncertain significance 357249 rs886061557 6:49399279-49399279 6:49431566-49431566
33 MMUT NM_000255.4(MMUT):c.-155deldeletion Uncertain significance 357266 rs886061562 6:49430931-49430931 6:49463218-49463218
34 MMAB NM_052845.4(MMAB):c.*2950C>TSNV Uncertain significance 307005 rs766894935 12:109991883-109991883 12:109554078-109554078
35 MMAB NM_052845.4(MMAB):c.*336_*337TG[21]short repeat Uncertain significance 307064 rs67024670 12:109994454-109994455 12:109556649-109556650
36 MMAB NM_052845.4(MMAB):c.*366_*378delinsAGAindel Uncertain significance 307069 rs886048925 12:109994455-109994467 12:109556650-109556662
37 MMAB NM_052845.4(MMAB):c.378G>T (p.Ser126=)SNV Uncertain significance 307081 rs749452007 12:109999628-109999628 12:109561823-109561823
38 MMAB NM_052845.3(MMAB):c.-49G>ASNV Uncertain significance 307084 rs748326668 12:110011334-110011334 12:109573529-109573529
39 MMAB NM_052845.3(MMAB):c.-69G>ASNV Uncertain significance 307085 rs886048928 12:110011354-110011354 12:109573549-109573549
40 MMAB NM_052845.4(MMAB):c.*364_*378delinsAGAindel Uncertain significance 307070 rs886048926 12:109994455-109994469 12:109556650-109556664
41 MMAB NM_052845.4(MMAB):c.*368_*378delinsAindel Uncertain significance 307067 rs886048924 12:109994455-109994465 12:109556650-109556660
42 MMAB NM_052845.4(MMAB):c.*336_*337TG[25]short repeat Uncertain significance 307063 rs67024670 12:109994453-109994454 12:109556648-109556649
43 MMAB NM_052845.4(MMAB):c.*336_*337TG[19]short repeat Uncertain significance 307066 rs67024670 12:109994454-109994459 12:109556649-109556654
44 MMAB NM_052845.4(MMAB):c.*336_*337TG[20]short repeat Uncertain significance 307065 rs67024670 12:109994454-109994457 12:109556649-109556652
45 MMAB NM_052845.4(MMAB):c.*336_*337TG[23]short repeat Uncertain significance 307061 rs67024670 12:109994453-109994454 12:109556648-109556649
46 MMAB NM_052845.4(MMAB):c.*380_*381AG[3]short repeat Uncertain significance 307059 rs370296168 12:109994446-109994447 12:109556641-109556642
47 MMAA NM_172250.3(MMAA):c.*1838G>ASNV Uncertain significance 347631 rs886059098 4:146578424-146578424 4:145657272-145657272
48 MCEE NM_032601.3(MCEE):c.-36C>GSNV Uncertain significance 336941 rs201494468 2:71357385-71357385 2:71130255-71130255
49 MMAA NM_172250.3(MMAA):c.*1897_*1901deldeletion Uncertain significance 347632 rs377206435 4:146578481-146578485 4:145657329-145657333
50 MMAA NM_172250.3(MMAA):c.*2019A>GSNV Uncertain significance 347638 rs886059102 4:146578605-146578605 4:145657453-145657453
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 17)
# Super pathways Score Top Affiliating Genes
1
Metabolism 65
Show member pathways
 13.96 SUCLG1 PCCB PCCA MVK MTRR MTR
2
HIV Life Cycle 65
Show member pathways
 13.56 PCCB PCCA MTRR MTR MMUT MMADHC
3
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) 65
Show member pathways
 12.72 PCCB PCCA MMUT MMAA MCEE
4
Carbon metabolism 36
Show member pathways
 12.21 SUCLG1 PCCB PCCA MTR MMUT MCEE
5
Folate Metabolism 1
Show member pathways
 12.19 MTRR MTR MMUT MMAB MCEE
6
Metabolism of water-soluble vitamins and cofactors 65
Show member pathways
 12.01 PCCB PCCA MTRR MTR MMUT MMADHC
7
Valine, leucine and isoleucine degradation 36
Show member pathways
 11.85 PCCB PCCA MMUT MCEE
8
Diseases of metabolism 65
Show member pathways
 11.78 PCCB PCCA MTRR MTR MMUT MMADHC
9
Mitochondrial Fatty Acid Beta-Oxidation 65
Show member pathways
 11.54 PCCB PCCA MMUT MMAA MCEE
10
Propanoate metabolism 36
11.19 SUCLG1 PCCB PCCA MMUT MCEE
11
Glyoxylate and dicarboxylate metabolism 36
11.15 PCCB PCCA MMUT MCEE
12
Cobalamin (Cbl, vitamin B12) transport and metabolism 65
10.98 MTRR MTR MMUT MMADHC MMACHC MMAB
13
superpathway of methionine degradation 1
Show member pathways
 10.97 PCCA MCEE
14
Vitamin digestion and absorption 36
10.94 MMACHC LMBRD1
15
Defective HLCS causes multiple carboxylase deficiency 65
Show member pathways
 10.62 PCCB PCCA
16
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE 65
Show member pathways
 10.13 MTRR MTR
17
Defective MMAA causes methylmalonic aciduria type cblA 65
Show member pathways
 10.11 MMUT 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 9.56 SUCLG1 PCCB PCCA MMUT MMADHC MMAB
2 mitochondrial matrix GO:0005759 9.17 SUCLG1 PCCB 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 biotin metabolic process GO:0006768 9.37 PCCB PCCA
3 short-chain fatty acid catabolic process GO:0019626 9.35 PCCB PCCA MMUT MMAA MCEE
4 homocysteine metabolic process GO:0050667 9.32 MTRR MMUT
5 cobalamin metabolic process GO:0009235 9.32 MTRR MTR MMUT MMADHC MMACHC MMAB
6 cobalamin transport GO:0015889 9.26 LMBRD1 CD320
7 sulfur amino acid metabolic process GO:0000096 9.16 MTRR MTR

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.86 SUCLG1 PCCB PCCA MVK MMAB MMAA
2 ligase activity GO:0016874 9.5 SUCLG1 PCCB PCCA
3 cobalamin-transporting ATPase activity GO:0015420 9.16 LMBRD1 CD320
4 cobalamin binding GO:0031419 9.1 MTR MMUT MMACHC MMAB LMBRD1 CD320
5 propionyl-CoA carboxylase activity GO:0004658 8.96 PCCB PCCA
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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