MCID: ISL099
MIFTS: 22

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

External Ids:

UMLS 69 C0268583

Summaries for Isolated Methylmalonic Acidemia

MalaCards based summary : Isolated Methylmalonic Acidemia, also known as isolated methylmalonic aciduria, is related to methylmalonic aciduria, cblb type and diabetes mellitus, ketosis-prone. 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 Selenium Micronutrient Network. 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

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, cblb type 31.4 MMAB MUT
2 diabetes mellitus, ketosis-prone 10.0
3 organic acidemia 9.5 MMAB MUT

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

Interventional clinical trials:


# 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 Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia Terminated NCT01597440 Phase 2 N-carbamylglutamate
6 Ataluren for Nonsense Mutation Methylmalonic Acidemia Terminated NCT01141075 Phase 2 Ataluren (PTC124)
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:

38
Liver, Globus Pallidus, Kidney

Publications for Isolated Methylmalonic Acidemia

Articles related to Isolated Methylmalonic Acidemia:

(show all 13)
# Title Authors Year
1
Isolated methylmalonic acidemia: a case report. ( 27492701 )
2016
2
[Identification of two novel mutations of MUT gene in a Chinese family affected with isolated methylmalonic acidemia]. ( 27060300 )
2016
3
Isolated methylmalonic acidemia with unusual presentation mimicking diabetic ketoacidosis. ( 26581066 )
2016
4
Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia. ( 26370686 )
2015
5
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias. ( 26270765 )
2015
6
Liver or Combined Liver-Kidney Transplantation for Patients with Isolated Methylmalonic Acidemia: Who and When? ( 25882873 )
2015
7
Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants. ( 26454439 )
2015
8
MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia. ( 25190203 )
2014
9
Renal growth in isolated methylmalonic acidemia. ( 23639900 )
2013
10
Neurocognitive phenotype of isolated methylmalonic acidemia. ( 22614770 )
2012
11
Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia. ( 22695176 )
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:

# 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:

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

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 MUT

Sources for Isolated Methylmalonic Acidemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....