MCID: ISL099
MIFTS: 24

Isolated Methylmalonic Acidemia

Aliases & Classifications for Isolated Methylmalonic Acidemia

MalaCards integrated aliases for Isolated Methylmalonic Acidemia:

Name: Isolated Methylmalonic Acidemia 24 29
Isolated Methylmalonic Aciduria 24
Methylmalonic Acidemia 73

External Ids:

UMLS 73 C0268583

Summaries for Isolated Methylmalonic Acidemia

MalaCards based summary : Isolated Methylmalonic Acidemia, also known as isolated methylmalonic aciduria, is related to methylmalonic aciduria due to methylmalonyl-coa mutase deficiency and methylmalonic aciduria, cblb type. An important gene associated with Isolated Methylmalonic Acidemia is MMAB (Metabolism Of Cobalamin Associated B), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Selenium Micronutrient Network. The drugs Methylcobalamin and Hydroxocobalamin have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and globus pallidus.

GeneReviews: NBK1231

Related Diseases for Isolated Methylmalonic Acidemia

Diseases related to Isolated Methylmalonic Acidemia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 32.1 MMAB MMUT
2 methylmalonic aciduria, cblb type 11.6
3 methylmalonic aciduria, cbla type 11.3
4 methylmalonic aciduria and homocystinuria, cblc type 11.3
5 methylmalonic aciduria and homocystinuria, cbld type 11.3
6 diabetes mellitus, ketosis-prone 10.1
7 homocystinuria 10.1

Graphical network of the top 20 diseases related to Isolated Methylmalonic Acidemia:



Diseases related to Isolated Methylmalonic Acidemia

Symptoms & Phenotypes for Isolated Methylmalonic Acidemia

Drugs & Therapeutics for Isolated Methylmalonic Acidemia

Drugs for Isolated Methylmalonic Acidemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylcobalamin Approved, Experimental, Investigational Phase 3,Phase 2 13422-55-4
2
Hydroxocobalamin Approved Phase 3,Phase 2 13422-51-0 11953898 44475014
3
Metronidazole Approved Phase 3 443-48-1 4173
4
Cyanocobalamin Approved, Nutraceutical Phase 3,Phase 2 68-19-9 44176380
5
Biotin Approved, Investigational, Nutraceutical Phase 3 58-85-5 171548
6
Cobalamin Experimental Phase 3,Phase 2 13408-78-1 6438156
7 Vitamins Phase 3,Phase 2
8 Vitamin B 12 Phase 3,Phase 2
9 Vitamin B12 Phase 3,Phase 2
10 Vitamin B Complex Phase 3,Phase 2
11 carnitine Phase 3
12 Vitamin B7 Phase 3
13
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
14
Ornithine Approved, Nutraceutical Phase 2 3184-13-2, 70-26-8 6262
15
Glutamic Acid Approved, Nutraceutical Phase 2 56-86-0 33032
16 Ubiquinone Phase 2
17 Vitamin B9 Phase 2
18 Hematinics Phase 2
19 Folate Phase 2
20 Antioxidants Phase 2
21 Micronutrients Phase 2
22 Trace Elements Phase 2

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia Active, not recruiting 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 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 Clinical and Laboratory Study of Methylmalonic Acidemia Recruiting NCT00078078
11 "The MaP Study": Mapping the Patient Journey in MMA and PA Recruiting NCT03484767

Search NIH Clinical Center for Isolated Methylmalonic Acidemia

Genetic Tests for Isolated Methylmalonic Acidemia

Genetic tests related to Isolated Methylmalonic Acidemia:

# Genetic test Affiliating Genes
1 Isolated Methylmalonic Acidemia 29

Anatomical Context for Isolated Methylmalonic Acidemia

MalaCards organs/tissues related to Isolated Methylmalonic Acidemia:

41
Liver, Kidney, Globus Pallidus

Publications for Isolated Methylmalonic Acidemia

Articles related to Isolated Methylmalonic Acidemia:

(show all 15)
# Title Authors Year
1
Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings. ( 29996803 )
2018
2
Isolated methylmalonic acidemia with unusual presentation mimicking diabetic ketoacidosis. ( 26581066 )
2016
3
[Identification of two novel mutations of MUT gene in a Chinese family affected with isolated methylmalonic acidemia]. ( 27060300 )
2016
4
Isolated methylmalonic acidemia: a case report. ( 27492701 )
2016
5
Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants. ( 26454439 )
2015
6
Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia. ( 26370686 )
2015
7
Liver or Combined Liver-Kidney Transplantation for Patients with Isolated Methylmalonic Acidemia: Who and When? ( 25882873 )
2015
8
Molecular and biochemical alterations in tubular epithelial cells of patients with isolated methylmalonic aciduria. ( 26420839 )
2015
9
MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia. ( 25190203 )
2014
10
Renal growth in isolated methylmalonic acidemia. ( 23639900 )
2013
11
Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia. ( 22695176 )
2012
12
Neurocognitive phenotype of isolated methylmalonic acidemia. ( 22614770 )
2012
13
Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia. ( 17410422 )
2007
14
Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. ( 15781192 )
2005
15
Prolonged exclusive breast-feeding from vegan mother causing an acute onset of isolated methylmalonic aciduria due to a mild mutase deficiency. ( 10867733 )
2000

Variations for Isolated Methylmalonic Acidemia

Expression for Isolated Methylmalonic Acidemia

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

GO Terms for Isolated Methylmalonic Acidemia

Cellular components related to Isolated Methylmalonic Acidemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 8.96 MMAB MMUT
2 mitochondrial matrix GO:0005759 8.62 MMAB MMUT

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

# Name GO ID Score Top Affiliating Genes
1 cobalamin metabolic process GO:0009235 8.62 MMAB MMUT

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

# Name GO ID Score Top Affiliating Genes
1 cobalamin binding GO:0031419 8.62 MMAB MMUT

Sources for Isolated Methylmalonic Acidemia

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
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