Methylmalonic Acidemia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: MTH008 MIFTS: 47	Methylmalonic Acidemia Categories: Blood diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs Expand all tables

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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:

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 ³⁸ H00174

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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...

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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:

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Symptoms & Phenotypes for Methylmalonic Acidemia

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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

Hydroxocobalamin

Approved

Phase 3,Phase 2

13422-51-0

15589840 11953898

Metronidazole

Approved

Phase 3

443-48-1

4173

Methylcobalamin

Approved, Experimental, Investigational

Phase 3,Phase 2

13422-55-4

Biotin

Approved, Investigational, Nutraceutical

Phase 3

58-85-5

171548

Cyanocobalamin

Approved, Nutraceutical

Phase 3,Phase 2

68-19-9

44176380

Cobalamin

Experimental

Phase 3,Phase 2

13408-78-1

6857388

Vitamin B Complex

Phase 3,Phase 2

Vitamin B 12

Phase 3,Phase 2

Vitamins

Phase 3,Phase 2

Vitamin B12

Phase 3,Phase 2

Vitamin B7

Phase 3

carnitine

Phase 3

carbamide peroxide

Approved

Phase 2

124-43-6

Folic Acid

Approved, Nutraceutical, Vet_approved

Phase 2

59-30-3

6037

Ornithine

Approved, Nutraceutical

Phase 2

70-26-8, 3184-13-2

6262

Glutamic Acid

Approved, Nutraceutical

Phase 2

56-86-0

33032

Antioxidants

Phase 2

Trace Elements

Phase 2

Nutrients

Phase 2

Micronutrients

Phase 2

Hematinics

Phase 2

Folate

Phase 2

Ubiquinone

Phase 2

Vitamin B9

Phase 2

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

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Genetic Tests for Methylmalonic Acidemia

Genetic tests related to Methylmalonic Acidemia:

#	Genetic test	Affiliating Genes
1	Methylmalonic Acidemia ³⁰
2	Methylmalonic Aciduria ³⁰

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Anatomical Context for Methylmalonic Acidemia

MalaCards organs/tissues related to Methylmalonic Acidemia:

⁴²

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

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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 )	Levtova A...Braverman NE	2019
2	The Value of 1H-MRS and MRI in Combined Methylmalonic Aciduria and Homocystinuria. ( 30839328 )	Cheng A...Yu H	2019
3	Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups. ( 30940196 )	Chu TH...Niu DM	2019
4	The Value of Liver Transplantation for Methylmalonic Acidemia. ( 30949461 )	Jiang YZ...Sun LY	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 )	Alm?si T...Zelei T	2019
6	Long-term effect of subthalamic and pallidal deep brain stimulation for status dystonicus in children with methylmalonic acidemia and GNAO1 mutation. ( 31076915 )	Benato A...Antonini A	2019
7	Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations. ( 30712249 )	Keyfi F...Varasteh A	2019
8	Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newborns. ( 30448007 )	Peng G...Scharfe C	2019
9	Clinical Application of LC-MS/MS in the Follow-Up for Treatment of Children with Methylmalonic Aciduria. ( 31049874 )	Wang Y...Jiang T	2019
10	Allosteric Regulation of Oligomerization by a B12 Trafficking G-Protein Is Corrupted in Methylmalonic Aciduria. ( 31056463 )	Ruetz M...Banerjee R	2019
11	Acrodermatitis dysmetabolica as a sign of methylmalonic aciduria decompensation. ( 29881561 )	Rosa J...Gomes MF	2018
12	A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia. ( 29510241 )	Akamine S...Ohga S	2018
13	Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome. ( 29294253 )	Navarro D...Nolasco F	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 )	De Simone L...de Martino M	2018
15	Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria. ( 30157807 )	Hu S...Kong X	2018
16	Hydrocephalus in cblC type methylmalonic acidemia. ( 30564975 )	Zhang K...Liu Y	2018
17	Shunt surgery for early-onset severe hydrocephalus in methylmalonic acidemia: report on two cases and review of the literature. ( 29488077 )	Ma M...Zhang B	2018
18	Management of adult-onset methylmalonic acidemia with hypotonia and acute respiratory failure: A case report. ( 29924026 )	Zhao Z...Hsu YL	2018
19	Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings. ( 29996803 )	Lin Y...Fu Q	2018
20	Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data. ( 30023298 )	Chapman KA...Summar ML	2018
21	Methylmalonic acidemia: Current status and research priorities. ( 29862147 )	Zhou X...Han J	2018
22	Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations. ( 30728829 )	Zhou W...Gu M	2018
23	FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia. ( 30518688 )	Manoli I...Venditti CP	2018
24	Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia. ( 30209273 )	Peng G...Scharfe C	2018
25	Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia. ( 30157442 )	An D...Martini PGV	2018
26	Liver Transplantation for Propionic Acidemia and Methylmalonic Acidemia: Perioperative Management and Clinical Outcomes. ( 30080956 )	Critelli K...Squires JE	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 )	Shafaat M...Zeinali S	2018
28	Ammonia role in glial dysfunction in methylmalonic acidemia. ( 30008432 )	Gabbi P...Fighera MR	2018
29	Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type. ( 29660608 )	Richard E...P?rez B	2018
30	Spectrum of bone marrow pathology and hematological abnormalities in methylmalonic acidemia. ( 29330964 )	Bakshi NA...Sulaiman RA	2018
31	New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type. ( 29197662 )	Brasil S...P?rez B	2018
32	New in vitro model derived from brain-specific Mut-/- mice confirms cerebral ammonium accumulation in methylmalonic aciduria. ( 29934063 )	Remacle N...Ballhausen D	2018
33	Diagnostic dilemma of patients with methylmalonic aciduria: Experience from a tertiary care centre in Pakistan. ( 29808036 )	Majid H...Afroze B	2018
34	Transcobalamin receptor defect: Identification of two new cases through positive newborn screening for propionic/methylmalonic aciduria and long-term outcome. ( 29663633 )	Hannah-Shmouni F...Mercimek-Andrews S	2018
35	Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients. ( 28327205 )	Liu J...Zhao S	2017
36	Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia. ( 27748010 )	Potter SL...Parsons DW	2017
37	Pulmonary artery hypertension in methylmalonic acidemia. ( 27804229 )	Kido J...Nakamura K	2017
38	Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia. ( 29262333 )	An D...Martini PGV	2017
39	Methylmalonic Acidemia with Novel MUT Gene Mutations. ( 29158924 )	Panigrahi I...Singh S	2017
40	Mutation Analyses in Selected Exons of the MUT Gene in Indian Patients with Methylmalonic Acidemia. ( 28811685 )	Kumari C...Ramji S	2017
41	Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia. ( 28141776 )	Aldubayan SH...Levy HL	2017
42	Renal Involvement in Methylmalonic Aciduria. ( 29270502 )	Alkhunaizi AM...Al-Sannaa N	2017
43	Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria. ( 28497574 )	Plessl T...Froese DS	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 )	Chu J...Rosenblatt DS	2017
45	Manic-depressive Psychosis as the Initial Symptom in Adult Siblings with Late-onset Combined Methylmalonic Aciduria and Homocystinemia, Cobalamin C Type. ( 28218226 )	Wu LY...Jia JP	2017
46	Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience. ( 27591164 )	Devi AR...Naushad SM	2017
47	Juvenile gout in methylmalonic acidemia. ( 26952825 )	Charuvanij S...Vatanavicharn N	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 )	Han B...Liu Y	2016
49	Isolated methylmalonic acidemia with unusual presentation mimicking diabetic ketoacidosis. ( 26581066 )	Dejkhamron P...Wattanasirichaigoon D	2016
50	Isolated methylmalonic acidemia: a case report. ( 27492701 )	Es Sadki T...Cambonie G	2016

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Genes for Methylmalonic Acidemia

Genes related to Methylmalonic Acidemia (3 elite genes):

(show all 17)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MMAA	Metabolism Of Cobalamin Associated A	Protein Coding	438.46	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)	20301409
2	MMAB	Metabolism Of Cobalamin Associated B	Protein Coding	437.77	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)	20301409
3	MMUT	Methylmalonyl-CoA Mutase	Protein Coding	429.17	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)	20301409
4	MMACHC	Metabolism Of Cobalamin Associated C	Protein Coding	38.52	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
5	MMADHC	Metabolism Of Cobalamin Associated D	Protein Coding	27.49	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
6	MCEE	Methylmalonyl-CoA Epimerase	Protein Coding	25.97	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
7	MTR	5-Methyltetrahydrofolate-Homocysteine Methyltransferase	Protein Coding	24.67	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
8	MVK	Mevalonate Kinase	Protein Coding	23.37	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
9	PCCA	Propionyl-CoA Carboxylase Subunit Alpha	Protein Coding	21.28	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
10	CDKL5	Cyclin Dependent Kinase Like 5	Protein Coding	20.19	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
11	LMBRD1	LMBR1 Domain Containing 1	Protein Coding	17.45	DISEASES inferred ¹⁵
12	SUCLA2	Succinate-CoA Ligase ADP-Forming Beta Subunit	Protein Coding	17.41	DISEASES inferred ¹⁵
13	SUCLG1	Succinate-CoA Ligase Alpha Subunit	Protein Coding	17.28	DISEASES inferred ¹⁵
14	TSC2	TSC Complex Subunit 2	Protein Coding	17.15	GeneCards inferred via : Publications (show sections)
15	GPD2	Glycerol-3-Phosphate Dehydrogenase 2	Protein Coding	17.15	GeneCards inferred via : Publications (show sections)
16	MMD	Monocyte To Macrophage Differentiation Associated	Protein Coding	9.79	DISEASES inferred ¹⁵
17	CCDC163	Coiled-Coil Domain Containing 163	Protein Coding	8.14	GeneCards inferred via : Variants (show sections)

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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

Sources

Expression for Methylmalonic Acidemia

Search GEO for disease gene expression data for Methylmalonic Acidemia.

Sources

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	Metabolism ⁶⁷ Show member pathways Metabolic pathways ³⁸ Metabolism of lipids and lipoproteins ⁶⁷	13.83	GPD2 LMBRD1 MCEE MMAA MMAB MMACHC
2	Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) ⁶⁷ Show member pathways Fatty acid, triacylglycerol, and ketone body metabolism ⁶⁷ PPARA activates gene expression ⁶⁷ Transcriptional regulation of white adipocyte differentiation ⁶⁷	12.65	GPD2 MCEE MMAA MMUT PCCA
3	Metabolism of water-soluble vitamins and cofactors ⁶⁷ Show member pathways [2Fe-2S] iron-sulfur cluster biosynthesis ¹ Biotin transport and metabolism ⁶⁷ biotin-carboxyl carrier protein assembly ¹ coenzyme A biosynthesis ¹ Coenzyme A biosynthesis ⁶⁷ flavin biosynthesis ¹ folate polyglutamylation ¹ Metabolism of folate and pterines ⁶⁷ Metabolism of vitamins and cofactors ⁶⁷ molybdenum cofactor biosynthesis ¹ Molybdenum cofactor biosynthesis ⁶⁷ thiamin salvage III ¹ thio-molybdenum cofactor biosynthesis ¹ Vitamin B1 (thiamin) metabolism ⁶⁷ Vitamin B2 (riboflavin) metabolism ⁶⁷ Vitamin B5 (pantothenate) metabolism ⁶⁷ Vitamin C (ascorbate) metabolism ⁶⁷ Vitamins B6 activation to pyridoxal phosphate ⁶⁷	12.47	LMBRD1 MMAA MMAB MMACHC MMADHC MMUT
4	Carbon metabolism ³⁸ Show member pathways 2-Oxocarboxylic acid metabolism ³⁸ Biosynthesis of amino acids ³⁸ formaldehyde oxidation ¹	12.12	MCEE MMUT MTR PCCA SUCLA2 SUCLG1
5	Selenium Micronutrient Network ¹ Show member pathways Folate Metabolism ¹ Metabolism of ingested MeSeO2H into MeSeH ⁶⁷ thioredoxin pathway ¹ Vitamin B12 Metabolism ¹	12.09	MCEE MMAB MMUT MTR
6	Valine, leucine and isoleucine degradation ³⁸ Show member pathways 4-aminobutyrate degradation ¹ beta-alanine degradation ¹ Branched-chain amino acid catabolism ⁶⁷ Carnitine synthesis ⁶⁷ isoleucine degradation ¹ L-carnitine biosynthesis ¹ leucine degradation ¹ valine degradation ¹	11.75	MCEE MMUT PCCA
7	Diseases of metabolism ⁶⁷ Show member pathways Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD) ⁶⁷ Defective CD320 causes methylmalonic aciduria ⁶⁷ Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) ⁶⁷ Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC ⁶⁷ Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD ⁶⁷ Defective TCN2 causes hereditary megaloblastic anemia ⁶⁷ Defects in cobalamin (B12) metabolism ⁶⁷ Defects in vitamin and cofactor metabolism ⁶⁷ Electron transport from NADPH to Ferredoxin ⁶⁷ Metabolic disorders of biological oxidation enzymes ⁶⁷	11.6	MMAA MMACHC MMADHC MMUT MTR PCCA
8	Mitochondrial Fatty Acid Beta-Oxidation ⁶⁷ Show member pathways Beta oxidation of butanoyl-CoA to acetyl-CoA ⁶⁷ Beta oxidation of hexanoyl-CoA to butanoyl-CoA ⁶⁷ Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA ⁶⁷ Beta oxidation of myristoyl-CoA to lauroyl-CoA ⁶⁷ Beta oxidation of palmitoyl-CoA to myristoyl-CoA ⁶⁷ mitochondrial fatty acid beta-oxidation of saturated fatty acids ⁶⁷ mitochondrial fatty acid beta-oxidation of unsaturated fatty acids ⁶⁷ Propionyl-CoA catabolism ⁶⁷ propionyl-CoA degradation ¹	11.52	MCEE MMAA MMUT PCCA
9	Glyoxylate and dicarboxylate metabolism ³⁸	11.09	MCEE MMUT PCCA
10	superpathway of methionine degradation ¹ Show member pathways 2-oxobutanoate degradation ¹ 2-oxoisovalerate decarboxylation to isobutanoyl-CoA ¹ cysteine biosynthesis ¹ L-cysteine degradation I ¹ L-cysteine degradation II ¹	11.01	MCEE PCCA
11	Vitamin digestion and absorption ³⁸	10.9	LMBRD1 MMACHC
12	Propanoate metabolism ³⁸	10.86	MCEE MMUT PCCA SUCLA2 SUCLG1
13	Valproic Acid Pathway, Pharmacodynamics ⁶² Show member pathways aspartate biosynthesis ¹	10.83	SUCLA2 SUCLG1
14	Cobalamin (Cbl, vitamin B12) transport and metabolism ⁶⁷	10.49	LMBRD1 MMAA MMAB MMACHC MMADHC MMUT

Sources

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

Sources for Methylmalonic Acidemia

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia