MMAM
MCID: MTH076
MIFTS: 70

Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency (MMAM)

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase...

MalaCards integrated aliases for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency:

Name: Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 57 12 12 29 6
Methylmalonic Acidemia 12 76 53 25 29 6 15
Methylmalonic Aciduria 12 25 37 29 55
Methylmalonic Aciduria, Mut(0) Type 57 29 6
Methylmalonic Aciduria, Mut Type 57 12 13
Vitamin B12-Unresponsive Methylmalonic Aciduria 12 59
Methylmalonyl-Coenzyme a Mutase Deficiency 59 73
Methylmalonic Aciduria, Mut Type 29 6
Mma 53 25
Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cbla Type 12
Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cblb Type 12
Methylmalonicaciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin--Cbl a 12
Methylmalonicaciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin--Cbl B 12
Methylmalonic Acidemia Due to Methylmalonyl-Coa Mutase Deficiency Mma Due to Mcm Deficiency 57
Aciduria, Methylmalonic, Due to Methylmalonyl-Coa Mutase Deficiency 40
Methylmalonic Acidemia Due to Methylmalonyl-Coa Mutase Deficiency 12
Methylmalonicaciduria Due to Methylmalonic Coa Mutase Deficiency 12
Methylmalonicaciduria Due to Methylmalonyl-Coa Mutase Deficiency 75
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 59
Vitamin B12-Unresponsive Methylmalonic Aciduria Type Mut0 59
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- 59
Vitamin B12-Unresponsive Methylmalonic Aciduria Type Mut- 59
Vitamin B12-Unresponsive Methylmalonic Acidemia 59
Complete Deficiency of Methylmalonyl-Coa Mutase 59
Partial Deficiency of Methylmalonyl-Coa Mutase 59
Methylmalonicaciduria Vitamin B12 Unresponsive 75
Methylmalonyl-Coa Mutase Deficiency 59
Aciduria, Methylmalonic, Cbla Type 40
Aciduria, Methylmalonic, Cblb Type 40
Methylmalonic Acidemia, Cbla Type 12
Methylmalonic Acidemia, Cblb Type 12
Methylmalonic Aciduria Cblb Type 12
Methylmalonic Aciduria Type Cbla 12
Methylmalonic Aciduria Type Cblb 12
Methylmalonic Aciduria Mut Type 12
Isolated Methylmalonic Acidemia 25
Methylmalonic Aciduria Type Mut 75
Acidemia, Methylmalonic 53
Mmam 75

Characteristics:

Orphanet epidemiological data:

59
vitamin b12-unresponsive methylmalonic acidemia
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy,Neonatal; Age of death: early childhood;
vitamin b12-unresponsive methylmalonic acidemia type mut0
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;
vitamin b12-unresponsive methylmalonic acidemia type mut-
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
mut-0 denotes individuals with cultured fibroblast mutase activity that is undetectable secondary to no functional mutase
mut- denotes individuals with structurally altered mutase with reduced affinity for adenosylcobalamin (adocbl)
incidence of 1/50,000 births


HPO:

32
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase...

OMIM : 57 Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. This form is unresponsive to B12 therapy. Various forms of isolated methylmalonic aciduria also occur in a subset of patients with defects in the synthesis of the MUT coenzyme adenosylcobalamin (AdoCbl) and are classified according to complementation group: cblA (251100), caused by mutation in the MMAA gene (607481) on chromosome 4q31, and cblB (251110), caused by mutation in the MMAB gene (607568) on 12q24. Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (277400), cblD (277410), and cblF (277380). See the comprehensive review of Ledley (1990). (251000)

MalaCards based summary : Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency, also known as methylmalonic acidemia, is related to methylmalonic acidemia with homocystinuria and vitamin b12-responsive methylmalonic acidemia. An important gene associated with Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency is MMUT (Methylmalonyl-CoA Mutase), and among its related pathways/superpathways are Valine, leucine and isoleucine degradation and Metabolism. Affiliated tissues include kidney, liver and pancreas, and related phenotypes are intellectual disability and seizures

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.

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.

UniProtKB/Swiss-Prot : 75 Methylmalonic aciduria type mut: An often fatal disorder of organic acid metabolism. Common clinical features include lethargy, vomiting, failure to thrive, hypotonia, neurological deficit and early death. Two forms of the disease are distinguished by the presence (mut-) or absence (mut0) of residual enzyme activity. Mut0 patients have more severe neurological manifestations of the disease than do MUT- patients. MMAM is unresponsive to vitamin B12 therapy.

Wikipedia : 76 Methylmalonic acidemia (MMA), also called methylmalonic aciduria,[help 1] is an autosomal... more...

Related Diseases for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase...

Diseases related to Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 123)
# Related Disease Score Top Affiliating Genes
1 methylmalonic acidemia with homocystinuria 34.4 MMACHC MMADHC
2 vitamin b12-responsive methylmalonic acidemia 34.3 MMAA MTR
3 isolated methylmalonic acidemia 34.1 MMAB MMUT
4 methylmalonic aciduria and homocystinuria, cblc type 33.2 MMACHC MTR
5 methylmalonic aciduria, cblb type 33.0 MMAA MMAB
6 succinate-coa ligase deficiency 32.6 SUCLA2 SUCLG1
7 transcobalamin ii deficiency 31.8 LMBRD1 MMAA MMADHC MMUT MTHFR MTR
8 homocysteinemia 30.6 MMACHC MTHFR MTR
9 propionic acidemia 30.5 HLCS HMGCL MMAA OTC
10 vitamin b12 deficiency 30.5 MTHFR MTR TCN2
11 hyperlysinemia, type i 30.3 OTC PC
12 megaloblastic anemia 30.2 LMBRD1 MMADHC MTHFR MTR TCN2
13 neural tube defects, folate-sensitive 30.2 MTHFR MTR
14 homocystinuria 30.0 LMBRD1 MMACHC MMADHC MTHFR MTR TCN2
15 methylmalonic acidemia and homocysteinemia, cblx type 12.7
16 mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.6
17 methylmalonic acidemia due to transcobalamin receptor defect 12.5
18 methylmalonic aciduria and homocystinuria, cbld type 12.4
19 suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.4
20 methylmalonic acidemia with homocystinuria type cblj 12.3
21 mitochondrial dna depletion syndrome 5 12.3
22 methylmalonic aciduria microcephaly cataract 12.2
23 methylmalonic aciduria and homocystinuria type cble 12.2
24 methylmalonic aciduria and homocystinuria type cblg 12.2
25 sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.2
26 homocystinuria without methylmalonic aciduria 12.2
27 methylmalonic aciduria and homocystinuria, cblf type 12.1
28 methylmalonic aciduria, cbla type 12.0
29 monoclonal mast cell activation syndrome 11.9
30 amyotrophy, monomelic 11.6
31 methylmalonic aciduria, transient, due to transcobalamin receptor defect 11.5
32 o'sullivan-mcleod syndrome 11.5
33 methylmalonyl-coa epimerase deficiency 11.4
34 striatonigral degeneration, infantile 11.4
35 mitochondrial dna depletion syndrome 9 11.3
36 methylmalonyl-coenzyme a mutase deficiency 11.2
37 combined malonic and methylmalonic aciduria 11.2
38 methylmalonic aciduria and homocystinuria, cblj type 11.2
39 homocystinuria-megaloblastic anemia, cble complementation type 11.2
40 homocystinuria-megaloblastic anemia, cblg complementation type 11.2
41 mohr-tranebjaerg syndrome 11.2
42 diabetes mellitus, ketosis-prone 10.4
43 hyperglycemia 10.3
44 mitochondrial dna depletion syndrome 10.3
45 spasticity 10.3
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 Aciduria Due to Methylmalonyl-Coa Mutase Deficiency:



Diseases related to Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency

Symptoms & Phenotypes for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase...

Symptoms via clinical synopsis from OMIM:

57
Growth Weight:
failure to thrive

Metabolic Features:
dehydration
neonatal or infantile metabolic ketoacidosis

Hematology:
thrombocytopenia
leukopenia

Neurologic Central Nervous System:
coma
lethargy
developmental delay
hypotonia
cerebellar hemorrhage (rare)
more
Genitourinary Kidneys:
chronic renal failure
interstitial nephritis

Abdomen Liver:
hepatomegaly

Cardiovascular Heart:
cardiomyopathy

Abdomen Pancreas:
pancreatitis

Laboratory Abnormalities:
hyperammonemia
metabolic ketoacidosis
hyperglycinemia
normal serum cobalamin
methymalonicaciduria
more
Abdomen Gastrointestinal:
recurrent episodes of vomiting


Clinical features from OMIM:

251000

Human phenotypes related to Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency:

59 32 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0001249
2 seizures 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001250
3 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
4 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0001252
5 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
6 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
7 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Frequent (79-30%) HP:0002017
8 respiratory insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002093
9 neurological speech impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002167
10 global developmental delay 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0001263
11 splenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001744
12 hepatomegaly 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%),Occasional (29-5%) HP:0002240
13 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0000648
14 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0000083
15 renal tubular dysfunction 59 32 occasional (7.5%) Occasional (29-5%) HP:0000124
16 dehydration 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001944
17 immunodeficiency 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002721
18 anemia 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0001903
19 abdominal pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002027
20 hemiplegia/hemiparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004374
21 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
22 respiratory distress 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0002098
23 growth delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001510
24 cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001638
25 dystonia 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0001332
26 thrombocytopenia 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%),Occasional (29-5%) HP:0001873
27 pancreatitis 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0001733
28 anorexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002039
29 coma 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0001259
30 neutropenia 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001875
31 sepsis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100806
32 stroke 59 32 occasional (7.5%) Occasional (29-5%) HP:0001297
33 choreoathetosis 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0001266
34 hyperammonemia 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Very frequent (99-80%) HP:0001987
35 lethargy 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0001254
36 macrocytic anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001972
37 leukopenia 59 32 frequent (33%) Frequent (79-30%) HP:0001882
38 tetraparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002273
39 paraparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002385
40 chorea 59 Occasional (29-5%)
41 vomiting 32 HP:0002013
42 abnormality of movement 59 Occasional (29-5%)
43 generalized hypotonia 32 HP:0001290
44 methylmalonic aciduria 32 HP:0012120
45 tubulointerstitial nephritis 32 HP:0001970
46 stage 5 chronic kidney disease 32 HP:0003774
47 delayed cns myelination 32 HP:0002188
48 metabolic ketoacidosis 32 HP:0005979
49 hyperglycinemia 32 HP:0002154
50 cerebellar hemorrhage 32 occasional (7.5%) HP:0011695

GenomeRNAi Phenotypes related to Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased vaccinia virus (VACV) infection GR00249-S 9.58 ACSF3 CD320 HLCS HMGCL LMBRD1 MCEE
2 Decreased shRNA abundance GR00297-A 9.26 ACSF3 MMACHC MTR TCN2

Drugs & Therapeutics for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase...

Search Clinical Trials , NIH Clinical Center for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency

Genetic Tests for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase...

Genetic tests related to Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency:

# Genetic test Affiliating Genes
1 Methylmalonic Acidemia 29
2 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 29 MMUT
3 Methylmalonic Aciduria, Mut(-) Type 29
4 Methylmalonic Aciduria, Mut(0) Type 29
5 Methylmalonic Aciduria 29

Anatomical Context for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase...

MalaCards organs/tissues related to Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency:

41
Kidney, Liver, Pancreas, Globus Pallidus, Brain, Lung, Heart

Publications for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase...

Articles related to Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency:

(show top 50) (show all 256)
# Title Authors Year
1
Management of adult-onset methylmalonic acidemia with hypotonia and acute respiratory failure: A case report. ( 29924026 )
2018
2
Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome. ( 29294253 )
2018
3
A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia. ( 29510241 )
2018
4
Shunt surgery for early-onset severe hydrocephalus in methylmalonic acidemia: report on two cases and review of the literature. ( 29488077 )
2018
5
Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings. ( 29996803 )
2018
6
Liver Transplantation for Propionic Acidemia and Methylmalonic Acidemia: Perioperative Management and Clinical Outcomes. ( 30080956 )
2018
7
Spectrum of bone marrow pathology and hematological abnormalities in methylmalonic acidemia. ( 29330964 )
2018
8
Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type. ( 29660608 )
2018
9
Methylmalonic acidemia: Current status and research priorities. ( 29862147 )
2018
10
Ammonia role in glial dysfunction in methylmalonic acidemia. ( 30008432 )
2018
11
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
12
Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia. ( 30157442 )
2018
13
Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia. ( 30209273 )
2018
14
Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newborns. ( 30448007 )
2018
15
FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia. ( 30518688 )
2018
16
Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia. ( 28141776 )
2017
17
Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients. ( 28327205 )
2017
18
Mutation Analyses in Selected Exons of the MUT Gene in Indian Patients with Methylmalonic Acidemia. ( 28811685 )
2017
19
Methylmalonic Acidemia with Novel MUT Gene Mutations. ( 29158924 )
2017
20
Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia. ( 29262333 )
2017
21
Development and Validation of a GC-FID Method for Diagnosis of Methylmalonic Acidemia. ( 27536704 )
2016
22
Improvement in the prognosis and development of patients with methylmalonic acidemia after living donor liver transplant. ( 27670840 )
2016
23
Pulmonary artery hypertension in methylmalonic acidemia. ( 27804229 )
2016
24
The proteome of methylmalonic acidemia (MMA): the elucidation of altered pathways in patient livers. ( 26672496 )
2016
25
Methylmalonic Acidemia Diagnosis by Laboratory Methods. ( 28070528 )
2016
26
Identification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia. ( 28536607 )
2016
27
Perioperative management of living-donor liver transplantation for methylmalonic acidemia. ( 27221384 )
2016
28
Isolated methylmalonic acidemia with unusual presentation mimicking diabetic ketoacidosis. ( 26581066 )
2016
29
[Identification of two novel mutations of MUT gene in a Chinese family affected with isolated methylmalonic acidemia]. ( 27060300 )
2016
30
Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia. ( 27748010 )
2016
31
Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia. ( 26790480 )
2016
32
Juvenile gout in methylmalonic acidemia. ( 26952825 )
2016
33
Isolated methylmalonic acidemia: a case report. ( 27492701 )
2016
34
Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia. ( 26979128 )
2016
35
Methylmalonic acidemia mimicking diabetic ketoacidosis and septic shock in infants. ( 25810618 )
2015
36
Insights into the molecular mechanisms of methylmalonic acidemia using microarray technology. ( 26309541 )
2015
37
Early Liver Transplantation for Neonatal-Onset Methylmalonic Acidemia. ( 26077484 )
2015
38
Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants. ( 26454439 )
2015
39
Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia. ( 26370686 )
2015
40
Liver or Combined Liver-Kidney Transplantation for Patients with Isolated Methylmalonic Acidemia: Who and When? ( 25882873 )
2015
41
Successful Domino Liver Transplantation from a Patient with Methylmalonic Acidemia. ( 26219882 )
2015
42
Medical foods prescribed to treat methylmalonic acidemia linked with adverse outcomes for some patients: Studies explore impact of unbalanced amino acid formulation on growth, brain development. ( 26768187 )
2015
43
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias. ( 26270765 )
2015
44
Methylmalonic Acidemia. ( 26101005 )
2015
45
Treatment of Methylmalonic Acidemia by Liver or Combined Liver-Kidney Transplantation. ( 25771389 )
2015
46
Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review. ( 25567501 )
2015
47
Spectrum of mutations in 60 Saudi patients with Mut methylmalonic acidemia. ( 26615597 )
2015
48
Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia. ( 26667650 )
2015
49
Clinical presentation, gene analysis and outcomes in young patients with early-treated combined methylmalonic acidemia and homocysteinemia (cblC type) in Shandong province, China. ( 26563984 )
2015
50
Propofol administration in patients with methylmalonic acidemia and intracellular cobalamin metabolism disorders: a review of theoretical concerns and clinical experiences in 28 patients. ( 25985870 )
2015

Variations for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase...

UniProtKB/Swiss-Prot genetic disease variations for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency:

75 (show top 50) (show all 126)
# Symbol AA change Variation ID SNP ID
1 MMUT p.Arg93His VAR_004409 rs121918251
2 MMUT p.Trp105Arg VAR_004410 rs121918249
3 MMUT p.Ala191Glu VAR_004411 rs760782399
4 MMUT p.Arg228Gln VAR_004412 rs770810987
5 MMUT p.Tyr231Asn VAR_004413 rs864309736
6 MMUT p.Gly312Val VAR_004414 rs864309734
7 MMUT p.Val368Asp VAR_004416
8 MMUT p.Arg369His VAR_004417 rs564069299
9 MMUT p.Ala377Glu VAR_004418 rs121918250
10 MMUT p.Gly623Arg VAR_004420 rs121918254
11 MMUT p.Gly626Cys VAR_004421 rs982110849
12 MMUT p.Gly630Glu VAR_004422 rs143023066
13 MMUT p.Val633Gly VAR_004423 rs200055428
14 MMUT p.Gly648Asp VAR_004424 rs766721811
15 MMUT p.Val669Glu VAR_004425
16 MMUT p.His678Arg VAR_004427 rs147094927
17 MMUT p.Leu685Arg VAR_004429 rs864309739
18 MMUT p.Arg694Trp VAR_004430 rs777758903
19 MMUT p.Gly703Arg VAR_004431 rs121918255
20 MMUT p.Gly717Val VAR_004432 rs121918252
21 MMUT p.Gly94Val VAR_022393 rs535411418
22 MMUT p.Arg108His VAR_022394 rs483352778
23 MMUT p.Ala137Val VAR_022395
24 MMUT p.Ser148Leu VAR_022396
25 MMUT p.Asp156Asn VAR_022397
26 MMUT p.Gly158Val VAR_022398
27 MMUT p.Phe174Ser VAR_022399 rs864309733
28 MMUT p.Gly203Arg VAR_022400 rs778702777
29 MMUT p.Gly215Ser VAR_022401 rs121918258
30 MMUT p.Gln218His VAR_022402
31 MMUT p.Asn219Tyr VAR_022403 rs121918256
32 MMUT p.Ser262Asn VAR_022404
33 MMUT p.Gln293Pro VAR_022405
34 MMUT p.Leu328Phe VAR_022406 rs796052002
35 MMUT p.Ala535Pro VAR_022408 rs760183775
36 MMUT p.Tyr587Cys VAR_022409
37 MMUT p.Pro615Thr VAR_022410
38 MMUT p.Lys621Asn VAR_022411
39 MMUT p.Gln624Arg VAR_022412 rs768521956
40 MMUT p.His627Arg VAR_022413 rs372486357
41 MMUT p.Gly637Glu VAR_022414
42 MMUT p.Phe638Ile VAR_022415
43 MMUT p.Asp640Tyr VAR_022416 rs865815395
44 MMUT p.Gly642Arg VAR_022417 rs747897332
45 MMUT p.Met700Lys VAR_022418 rs140600746
46 MMUT p.Ile69Val VAR_023472 rs115923556
47 MMUT p.Gln109Arg VAR_023473 rs146111005
48 MMUT p.Ala324Thr VAR_023474
49 MMUT p.Leu328Pro VAR_023475 rs965316043
50 MMUT p.Arg616Cys VAR_023476 rs765284825

ClinVar genetic disease variations for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency:

6 (show top 50) (show all 968)
# Gene Variation Type Significance SNP ID Assembly Location
1 MMUT NM_000255.3(MMUT): c.52C> T (p.Gln18Ter) single nucleotide variant Likely pathogenic rs121918248 GRCh37 Chromosome 6, 49427128: 49427128
2 MMUT NM_000255.3(MMUT): c.52C> T (p.Gln18Ter) single nucleotide variant Likely pathogenic rs121918248 GRCh38 Chromosome 6, 49459415: 49459415
3 MMUT NM_000255.3(MMUT): c.313T> C (p.Trp105Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121918249 GRCh37 Chromosome 6, 49426867: 49426867
4 MMUT NM_000255.3(MMUT): c.313T> C (p.Trp105Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121918249 GRCh38 Chromosome 6, 49459154: 49459154
5 MMUT NM_000255.3(MMUT): c.1130C> A (p.Ala377Glu) single nucleotide variant Pathogenic rs121918250 GRCh37 Chromosome 6, 49419381: 49419381
6 MMUT NM_000255.3(MMUT): c.1130C> A (p.Ala377Glu) single nucleotide variant Pathogenic rs121918250 GRCh38 Chromosome 6, 49451668: 49451668
7 MMUT NM_000255.3(MMUT): c.278G> A (p.Arg93His) single nucleotide variant Pathogenic rs121918251 GRCh37 Chromosome 6, 49426902: 49426902
8 MMUT NM_000255.3(MMUT): c.278G> A (p.Arg93His) single nucleotide variant Pathogenic rs121918251 GRCh38 Chromosome 6, 49459189: 49459189
9 MMUT NM_000255.3(MMUT): c.2150G> T (p.Gly717Val) single nucleotide variant Pathogenic rs121918252 GRCh37 Chromosome 6, 49399544: 49399544
10 MMUT NM_000255.3(MMUT): c.2150G> T (p.Gly717Val) single nucleotide variant Pathogenic rs121918252 GRCh38 Chromosome 6, 49431831: 49431831
11 MMUT NM_000255.3(MMUT): c.349G> T (p.Glu117Ter) single nucleotide variant Pathogenic rs121918253 GRCh37 Chromosome 6, 49426831: 49426831
12 MMUT NM_000255.3(MMUT): c.349G> T (p.Glu117Ter) single nucleotide variant Pathogenic rs121918253 GRCh38 Chromosome 6, 49459118: 49459118
13 MMUT MUT, 2-BP DEL, 769CA deletion Pathogenic
14 MMUT NM_000255.3(MMUT): c.1867G> A (p.Gly623Arg) single nucleotide variant Pathogenic rs121918254 GRCh37 Chromosome 6, 49408008: 49408008
15 MMUT NM_000255.3(MMUT): c.1867G> A (p.Gly623Arg) single nucleotide variant Pathogenic rs121918254 GRCh38 Chromosome 6, 49440295: 49440295
16 MMUT NM_000255.3(MMUT): c.2107G> C (p.Gly703Arg) single nucleotide variant Pathogenic rs121918255 GRCh37 Chromosome 6, 49403186: 49403186
17 MMUT NM_000255.3(MMUT): c.2107G> C (p.Gly703Arg) single nucleotide variant Pathogenic rs121918255 GRCh38 Chromosome 6, 49435473: 49435473
18 MMUT NM_000255.3(MMUT): c.655A> T (p.Asn219Tyr) single nucleotide variant Pathogenic rs121918256 GRCh37 Chromosome 6, 49425502: 49425502
19 MMUT NM_000255.3(MMUT): c.655A> T (p.Asn219Tyr) single nucleotide variant Pathogenic rs121918256 GRCh38 Chromosome 6, 49457789: 49457789
20 MMUT NM_000255.3(MMUT): c.322C> T (p.Arg108Cys) single nucleotide variant Pathogenic rs121918257 GRCh37 Chromosome 6, 49426858: 49426858
21 MMUT NM_000255.3(MMUT): c.322C> T (p.Arg108Cys) single nucleotide variant Pathogenic rs121918257 GRCh38 Chromosome 6, 49459145: 49459145
22 MMUT NM_000255.3(MMUT): c.643G> A (p.Gly215Ser) single nucleotide variant Pathogenic rs121918258 GRCh37 Chromosome 6, 49425514: 49425514
23 MMUT NM_000255.3(MMUT): c.643G> A (p.Gly215Ser) single nucleotide variant Pathogenic rs121918258 GRCh38 Chromosome 6, 49457801: 49457801
24 MMUT MUT, IVS11, C-A, -891 single nucleotide variant Pathogenic
25 MMUT MUT, 1808G-A single nucleotide variant Pathogenic
26 MMAB NM_052845.3(MMAB): c.556C> T (p.Arg186Trp) single nucleotide variant Pathogenic rs28941784 GRCh37 Chromosome 12, 109998873: 109998873
27 MMAB NM_052845.3(MMAB): c.556C> T (p.Arg186Trp) single nucleotide variant Pathogenic rs28941784 GRCh38 Chromosome 12, 109561068: 109561068
28 MMAB NM_052845.3: c.573_577delGGCCG deletion Pathogenic
29 MMAA NM_172250.2(MMAA): c.433C> T (p.Arg145Ter) single nucleotide variant Pathogenic rs104893851 GRCh37 Chromosome 4, 146560724: 146560724
30 MMAA NM_172250.2(MMAA): c.433C> T (p.Arg145Ter) single nucleotide variant Pathogenic rs104893851 GRCh38 Chromosome 4, 145639572: 145639572
31 MMUT NM_000255.3(MMUT): c.1445-2A> G single nucleotide variant Pathogenic rs398123276 GRCh37 Chromosome 6, 49415500: 49415500
32 MMUT NM_000255.3(MMUT): c.1445-2A> G single nucleotide variant Pathogenic rs398123276 GRCh38 Chromosome 6, 49447787: 49447787
33 MMUT NM_000255.3(MMUT): c.1495G> A (p.Ala499Thr) single nucleotide variant Benign/Likely benign rs2229385 GRCh37 Chromosome 6, 49415448: 49415448
34 MMUT NM_000255.3(MMUT): c.1495G> A (p.Ala499Thr) single nucleotide variant Benign/Likely benign rs2229385 GRCh38 Chromosome 6, 49447735: 49447735
35 MMUT NM_000255.3(MMUT): c.1595G> A (p.Arg532His) single nucleotide variant Benign/Likely benign rs1141321 GRCh37 Chromosome 6, 49412433: 49412433
36 MMUT NM_000255.3(MMUT): c.1595G> A (p.Arg532His) single nucleotide variant Benign/Likely benign rs1141321 GRCh38 Chromosome 6, 49444720: 49444720
37 MMUT NM_000255.3(MMUT): c.1629C> T (p.Ser543=) single nucleotide variant Conflicting interpretations of pathogenicity rs150642856 GRCh37 Chromosome 6, 49412399: 49412399
38 MMUT NM_000255.3(MMUT): c.1629C> T (p.Ser543=) single nucleotide variant Conflicting interpretations of pathogenicity rs150642856 GRCh38 Chromosome 6, 49444686: 49444686
39 MMUT NM_000255.3(MMUT): c.1852_1854delCTT (p.Leu618del) deletion Uncertain significance rs398123277 GRCh37 Chromosome 6, 49408021: 49408023
40 MMUT NM_000255.3(MMUT): c.1852_1854delCTT (p.Leu618del) deletion Uncertain significance rs398123277 GRCh38 Chromosome 6, 49440308: 49440310
41 MMUT NM_000255.3(MMUT): c.1992G> A (p.Ala664=) single nucleotide variant Benign rs144146728 GRCh37 Chromosome 6, 49403301: 49403301
42 MMUT NM_000255.3(MMUT): c.1992G> A (p.Ala664=) single nucleotide variant Benign rs144146728 GRCh38 Chromosome 6, 49435588: 49435588
43 MMUT NM_000255.3(MMUT): c.2011A> G (p.Ile671Val) single nucleotide variant Benign rs8589 GRCh37 Chromosome 6, 49403282: 49403282
44 MMUT NM_000255.3(MMUT): c.2011A> G (p.Ile671Val) single nucleotide variant Benign rs8589 GRCh38 Chromosome 6, 49435569: 49435569
45 MMUT NM_000255.3(MMUT): c.636G> A (p.Lys212=) single nucleotide variant Benign rs2229384 GRCh37 Chromosome 6, 49425521: 49425521
46 MMUT NM_000255.3(MMUT): c.636G> A (p.Lys212=) single nucleotide variant Benign rs2229384 GRCh38 Chromosome 6, 49457808: 49457808
47 MMUT NM_000255.3(MMUT): c.91C> T (p.Arg31Ter) single nucleotide variant Pathogenic rs398123278 GRCh37 Chromosome 6, 49427089: 49427089
48 MMUT NM_000255.3(MMUT): c.91C> T (p.Arg31Ter) single nucleotide variant Pathogenic rs398123278 GRCh38 Chromosome 6, 49459376: 49459376
49 MMAB; MVK NM_052845.3(MMAB): c.288T> C (p.Ile96=) single nucleotide variant Benign/Likely benign rs62000414 GRCh37 Chromosome 12, 110006577: 110006577
50 MMAB; MVK NM_052845.3(MMAB): c.288T> C (p.Ile96=) single nucleotide variant Benign/Likely benign rs62000414 GRCh38 Chromosome 12, 109568772: 109568772

Expression for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase...

Search GEO for disease gene expression data for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency.

Pathways for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase...

Pathways related to Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency according to KEGG:

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

Pathways related to Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.84 ACSF3 CD320 HLCS HMGCL LMBRD1 MCEE
2
Show member pathways
13.52 CD320 MMAA MMACHC MMADHC MMUT MTR
3
Show member pathways
12.69 ACSF3 HMGCL MCEE MMAA MMUT
4
Show member pathways
12.34 CD320 HLCS LMBRD1 MMAA MMAB MMACHC
5
Show member pathways
12.25 MCEE MMUT MTHFR MTR OTC PC
6
Show member pathways
12.22 MCEE MMAB MMUT MTHFR MTR TCN2
7
Show member pathways
11.89 MTHFR MTR TCN2
8
Show member pathways
11.85 ACSF3 HMGCL MCEE MMUT
9
Show member pathways
11.73 PC SUCLA2 SUCLG1
10 11.73 HMGCL MMUT OTC PC SUCLG1
11
Show member pathways
11.73 CD320 MMAA MMACHC MMADHC MMUT MTR
12
Show member pathways
11.51 MCEE MMAA MMUT
13 11.24 MCEE MMUT SUCLA2 SUCLG1
14 11.05 MCEE MMUT
15 11.01 LMBRD1 MMACHC TCN2
16
Show member pathways
10.88 SUCLA2 SUCLG1
17 10.6 CD320 LMBRD1 MMAA MMAB MMACHC MMADHC
18
Show member pathways
10.1 MMAA MMUT

GO Terms for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase...

Cellular components related to Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.73 ACSF3 HLCS HMGCL MCEE MMAA MMAB
2 mitochondrial matrix GO:0005759 9.32 ACSF3 HMGCL MCEE MMAA MMAB MMUT

Biological processes related to Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.67 HLCS MTHFR PC
2 tricarboxylic acid cycle GO:0006099 9.48 SUCLA2 SUCLG1
3 methionine biosynthetic process GO:0009086 9.46 MTHFR MTR
4 succinate metabolic process GO:0006105 9.43 SUCLA2 SUCLG1
5 homocysteine metabolic process GO:0050667 9.4 MMUT MTHFR
6 biotin metabolic process GO:0006768 9.37 HLCS PC
7 cobalamin transport GO:0015889 9.33 CD320 LMBRD1 TCN2
8 succinyl-CoA metabolic process GO:0006104 9.32 SUCLA2 SUCLG1
9 cobalamin metabolic process GO:0009235 9.28 CD320 LMBRD1 MMAA MMAB MMACHC MMADHC
10 response to biotin GO:0070781 9.26 HLCS OTC
11 cobalamin biosynthetic process GO:0009236 9.13 MMAA MMAB MMACHC

Molecular functions related to Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.85 HLCS HMGCL MMAA MMACHC MMUT
2 ligase activity GO:0016874 9.55 ACSF3 HLCS PC SUCLA2 SUCLG1
3 catalytic activity GO:0003824 9.5 ACSF3 HLCS HMGCL MTHFR PC SUCLA2
4 FAD binding GO:0071949 9.43 MMACHC MTHFR
5 modified amino acid binding GO:0072341 9.4 MMUT MTHFR
6 biotin binding GO:0009374 9.37 HLCS PC
7 cobalamin-transporting ATPase activity GO:0015420 9.32 CD320 LMBRD1
8 succinate-CoA ligase (ADP-forming) activity GO:0004775 9.26 SUCLA2 SUCLG1
9 cobalamin binding GO:0031419 9.17 CD320 LMBRD1 MMAB MMACHC MMUT MTR

Sources for Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....