MCID: ISL099
MIFTS: 21

Isolated Methylmalonic Acidemia

Aliases & Classifications for Isolated Methylmalonic Acidemia

MalaCards integrated aliases for Isolated Methylmalonic Acidemia:

Name: Isolated Methylmalonic Acidemia 23
Isolated Methylmalonic Aciduria 23
Methylmalonic Acidemia 69

Summaries for Isolated Methylmalonic Acidemia

MalaCards based summary : Isolated Methylmalonic Acidemia, also known as isolated methylmalonic aciduria, is related to methylmalonic acidemia and methylmalonic aciduria, mut(0) type. An important gene associated with Isolated Methylmalonic Acidemia is MUT (Methylmalonyl-CoA Mutase), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Cobalamin (Cbl, vitamin B12) transport and metabolism. The drugs Hydroxocobalamin and Metronidazole have been mentioned in the context of this disorder. Affiliated tissues include liver, globus pallidus and kidney.

GeneReviews: NBK1231

Related Diseases for Isolated Methylmalonic Acidemia

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)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxocobalamin Approved Phase 3,Phase 2 13422-51-0 11953898 5460373 44475014
2
Metronidazole Approved Phase 3 443-48-1 4173
3
Cyanocobalamin Approved, Nutraceutical Phase 3,Phase 2 68-19-9 44176380
4
Biotin Approved, Nutraceutical Phase 3 58-85-5 171548
5 Vitamin B 12 Phase 3,Phase 2
6 Vitamin B Complex Phase 3,Phase 2
7 Vitamins Phase 3,Phase 2
8
Cobalamin Nutraceutical Phase 3,Phase 2 13408-78-1 6438156
9
Methylcobalamin Experimental, Nutraceutical Phase 3,Phase 2 13422-55-4
10 Vitamin B12 Nutraceutical Phase 3,Phase 2
11 carnitine Nutraceutical Phase 3
12 Vitamin B7 Nutraceutical Phase 3
13
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
14
Ornithine Approved, Nutraceutical Phase 2 70-26-8, 3184-13-2 6262 389
15
Glutamic Acid Approved, Nutraceutical Phase 2 56-86-0 33032
16 Antioxidants Phase 2
17 Hematinics Phase 2
18 Micronutrients Phase 2
19 Trace Elements Phase 2
20 Ubiquinone Phase 2
21 Folate Nutraceutical Phase 2
22 Vitamin B9 Nutraceutical Phase 2

Interventional clinical trials:


id 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 Ataluren for Nonsense Mutation Methylmalonic Acidemia Suspended NCT01141075 Phase 2 Ataluren (PTC124)
6 Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia Terminated NCT01597440 Phase 2 N-carbamylglutamate
7 Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate Withdrawn NCT01341379 Phase 2 N-carbamylglutamate
8 Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome Study Unknown status NCT01289158
9 Clinical and Laboratory Study of Methylmalonic Acidemia Recruiting NCT00078078
10 Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol Suspended NCT02322177

Search NIH Clinical Center for Isolated Methylmalonic Acidemia

Genetic Tests for Isolated Methylmalonic Acidemia

Anatomical Context for Isolated Methylmalonic Acidemia

MalaCards organs/tissues related to Isolated Methylmalonic Acidemia:

39
Liver, Globus Pallidus, Kidney

Publications for Isolated Methylmalonic Acidemia

Articles related to Isolated Methylmalonic Acidemia:

(show all 13)
id Title Authors Year
1
Isolated methylmalonic acidemia: a case report. ( 27492701 )
2016
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
Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia. ( 26370686 )
2015
5
Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants. ( 26454439 )
2015
6
Liver or Combined Liver-Kidney Transplantation for Patients with Isolated Methylmalonic Acidemia: Who and When? ( 25882873 )
2015
7
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias. ( 26270765 )
2015
8
MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia. ( 25190203 )
2014
9
Renal growth in isolated methylmalonic acidemia. ( 23639900 )
2013
10
Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia. ( 22695176 )
2012
11
Neurocognitive phenotype of isolated methylmalonic acidemia. ( 22614770 )
2012
12
Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia. ( 17410422 )
2007
13
Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. ( 15781192 )
2005

Variations for Isolated Methylmalonic Acidemia

Expression for Isolated Methylmalonic Acidemia

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

Pathways for Isolated Methylmalonic Acidemia

GO Terms for Isolated Methylmalonic Acidemia

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 8.62 MMAB MUT

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

id Name GO ID Score Top Affiliating Genes
1 cobalamin metabolic process GO:0009235 8.62 MMAB MUT

Sources for Isolated Methylmalonic Acidemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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