MCID: MTH040
MIFTS: 21

Methylmalonyl-Coa Epimerase Deficiency

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Methylmalonyl-Coa Epimerase Deficiency

MalaCards integrated aliases for Methylmalonyl-Coa Epimerase Deficiency:

Name: Methylmalonyl-Coa Epimerase Deficiency 57 75 29 13 6 40 73
Methylmalonyl-Coa Racemase Deficiency 57 75
Methylmalonic Acidemia Due to Methylmalonyl-Coa Epimerase Deficiency 59
Methylmalonic Aciduria Due to Methylmalonyl-Coa Epimerase Deficiency 59
Methylmalonic Acidemia Due to Methylmalonyl-Coa Racemase Deficiency 59
Methylmalonic Aciduria Due to Methylmalonyl-Coa Racemase Deficiency 59
Methylmalonic Aciduria Iii, Formerly 57
Methylmalonic Aciduria Type 3 75
Methylmalonyl-Coa Epimerase 13
Methylmalonic Aciduria Iii 75
Mcee Deficiency 59
Pd 166866 44
Mceed 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
symptoms vary from asymptomatic patients to patients with metabolic acidosis


HPO:

32
methylmalonyl-coa epimerase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 251120
Orphanet 59 ORPHA308425
ICD10 via Orphanet 34 E71.1
UMLS via Orphanet 74 C1855100
UMLS 73 C1855100

Summaries for Methylmalonyl-Coa Epimerase Deficiency

UniProtKB/Swiss-Prot : 75 Methylmalonyl-CoA epimerase deficiency: Autosomal recessive inborn error of amino acid metabolism, involving valine, threonine, isoleucine and methionine. This organic aciduria may present in the neonatal period with life-threatening metabolic acidosis, hyperammonemia, feeding difficulties, pancytopenia and coma.

MalaCards based summary : Methylmalonyl-Coa Epimerase Deficiency, is also known as methylmalonyl-coa racemase deficiency. An important gene associated with Methylmalonyl-Coa Epimerase Deficiency is MCEE (Methylmalonyl-CoA Epimerase). Related phenotypes are failure to thrive and metabolic acidosis

Wikipedia : 76 Methylmalonyl CoA epimerase (EC 5.1.99.1, methylmalonyl-CoA racemase, methylmalonyl coenzyme A racemase,... more...

Description from OMIM: 251120

Related Diseases for Methylmalonyl-Coa Epimerase Deficiency

Symptoms & Phenotypes for Methylmalonyl-Coa Epimerase Deficiency

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Metabolic Features:
metabolic acidosis
dehydration
self-regulated protein restriction

Abdomen Gastrointestinal:
gastroesophageal reflux

Laboratory Abnormalities:
methylmalonic aciduria, mild
normal plasma total homocysteine
elevated plasma propionylcarnitine
ketonuria
normal b12


Clinical features from OMIM:

251120

Human phenotypes related to Methylmalonyl-Coa Epimerase Deficiency:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 metabolic acidosis 32 HP:0001942
3 dehydration 32 HP:0001944
4 gastroesophageal reflux 32 HP:0002020
5 methylmalonic acidemia 32 HP:0002912
6 ketonuria 32 HP:0002919
7 methylmalonic aciduria 32 HP:0012120

Drugs & Therapeutics for Methylmalonyl-Coa Epimerase Deficiency

Search Clinical Trials , NIH Clinical Center for Methylmalonyl-Coa Epimerase Deficiency

Cochrane evidence based reviews: pd 166866

Genetic Tests for Methylmalonyl-Coa Epimerase Deficiency

Genetic tests related to Methylmalonyl-Coa Epimerase Deficiency:

# Genetic test Affiliating Genes
1 Methylmalonyl-Coa Epimerase Deficiency 29 MCEE

Anatomical Context for Methylmalonyl-Coa Epimerase Deficiency

Publications for Methylmalonyl-Coa Epimerase Deficiency

Articles related to Methylmalonyl-Coa Epimerase Deficiency:

# Title Authors Year
1
Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE). ( 17823972 )
2007
2
A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. ( 16752391 )
2006
3
Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism. ( 16843692 )
2006
4
Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria. ( 16697227 )
2006

Variations for Methylmalonyl-Coa Epimerase Deficiency

ClinVar genetic disease variations for Methylmalonyl-Coa Epimerase Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MCEE NM_032601.3(MCEE): c.139C> T (p.Arg47Ter) single nucleotide variant Pathogenic rs111033538 GRCh37 Chromosome 2, 71351575: 71351575
2 MCEE NM_032601.3(MCEE): c.139C> T (p.Arg47Ter) single nucleotide variant Pathogenic rs111033538 GRCh38 Chromosome 2, 71124445: 71124445
3 MCEE NM_032601.3(MCEE): c.102C> G (p.Pro34=) single nucleotide variant Benign rs146573280 GRCh37 Chromosome 2, 71351612: 71351612
4 MCEE NM_032601.3(MCEE): c.102C> G (p.Pro34=) single nucleotide variant Benign rs146573280 GRCh38 Chromosome 2, 71124482: 71124482
5 MCEE NM_032601.3(MCEE): c.427C> T (p.Arg143Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs138436961 GRCh37 Chromosome 2, 71337204: 71337204
6 MCEE NM_032601.3(MCEE): c.427C> T (p.Arg143Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs138436961 GRCh38 Chromosome 2, 71110074: 71110074
7 MCEE NM_032601.3(MCEE): c.178A> C (p.Lys60Gln) single nucleotide variant Uncertain significance rs147401037 GRCh38 Chromosome 2, 71124406: 71124406
8 MCEE NM_032601.3(MCEE): c.178A> C (p.Lys60Gln) single nucleotide variant Uncertain significance rs147401037 GRCh37 Chromosome 2, 71351536: 71351536
9 MCEE NM_032601.3(MCEE): c.428G> A (p.Arg143His) single nucleotide variant Benign/Likely benign rs115175255 GRCh38 Chromosome 2, 71110073: 71110073
10 MCEE NM_032601.3(MCEE): c.428G> A (p.Arg143His) single nucleotide variant Benign/Likely benign rs115175255 GRCh37 Chromosome 2, 71337203: 71337203

Expression for Methylmalonyl-Coa Epimerase Deficiency

Search GEO for disease gene expression data for Methylmalonyl-Coa Epimerase Deficiency.

Pathways for Methylmalonyl-Coa Epimerase Deficiency

GO Terms for Methylmalonyl-Coa Epimerase Deficiency

Sources for Methylmalonyl-Coa Epimerase Deficiency

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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