MCEED
MCID: MTH040
MIFTS: 27

Methylmalonyl-Coa Epimerase Deficiency (MCEED)

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 72 29 13 6 39 70
Methylmalonyl-Coa Racemase Deficiency 57 72
Methylmalonic Acidemia Due to Methylmalonyl-Coa Epimerase Deficiency 58
Methylmalonic Aciduria Due to Methylmalonyl-Coa Epimerase Deficiency 58
Methylmalonic Acidemia Due to Methylmalonyl-Coa Racemase Deficiency 58
Methylmalonic Aciduria Due to Methylmalonyl-Coa Racemase Deficiency 58
Methylmalonic Aciduria Iii, Formerly 57
Methylmalonic Aciduria Type 3 72
Methylmalonic Aciduria Iii 72
Mcee Deficiency 58
Mceed 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
methylmalonyl-coa epimerase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

OMIM® 57 251120
ICD10 via Orphanet 33 E71.1
UMLS via Orphanet 71 C1855100
Orphanet 58 ORPHA308425
UMLS 70 C1855100

Summaries for Methylmalonyl-Coa Epimerase Deficiency

UniProtKB/Swiss-Prot : 72 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, also known as methylmalonyl-coa racemase deficiency, is related to dystonia, dopa-responsive, due to sepiapterin reductase deficiency and metabolic acidosis. An important gene associated with Methylmalonyl-Coa Epimerase Deficiency is MCEE (Methylmalonyl-CoA Epimerase). Related phenotypes are failure to thrive and gastroesophageal reflux

Wikipedia : 73 Methylmalonyl CoA epimerase (EC 5.1.99.1, methylmalonyl-CoA racemase, methylmalonyl coenzyme A racemase,... more...

More information from OMIM: 251120

Related Diseases for Methylmalonyl-Coa Epimerase Deficiency

Diseases related to Methylmalonyl-Coa Epimerase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 8, show less)
# Related Disease Score Top Affiliating Genes
1 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 10.4
2 metabolic acidosis 10.4
3 propionic acidemia 10.3
4 carbonic anhydrase va deficiency, hyperammonemia due to 10.3
5 methylmalonic acidemia 10.3
6 dystonia 10.3
7 narcolepsy 10.3
8 hypersomnia 10.3

Graphical network of the top 20 diseases related to Methylmalonyl-Coa Epimerase Deficiency:



Diseases related to Methylmalonyl-Coa Epimerase Deficiency

Symptoms & Phenotypes for Methylmalonyl-Coa Epimerase Deficiency

Human phenotypes related to Methylmalonyl-Coa Epimerase Deficiency:

31 (showing 7, show less)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 gastroesophageal reflux 31 HP:0002020
3 dehydration 31 HP:0001944
4 metabolic acidosis 31 HP:0001942
5 methylmalonic aciduria 31 HP:0012120
6 methylmalonic acidemia 31 HP:0002912
7 ketonuria 31 HP:0002919

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

Metabolic Features:
dehydration
metabolic acidosis
self-regulated protein restriction

Abdomen Gastrointestinal:
gastroesophageal reflux

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

Clinical features from OMIM®:

251120 (Updated 20-May-2021)

Drugs & Therapeutics for Methylmalonyl-Coa Epimerase Deficiency

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

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:

(showing 10, show less)
# Title Authors PMID Year
1
A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. 57 6 61
16752391 2006
2
Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria. 6 57
16697227 2006
3
Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria. 6 61
29104221 2017
4
Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene. 6 61
27699154 2016
5
Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under L-DOPA, 5-HTP and BH4 Trials. 6 61
25763508 2015
6
Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE). 6
17823972 2007
7
Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia. 57
16650784 2006
8
Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. 57
11443547 2001
9
Metabolism of methylmalonic acid in rats. Is methylmalonyl-coenzyme a racemase deficiency symptomatic in man? 57
6643681 1983
10
Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency. 61
30682498 2019

Variations for Methylmalonyl-Coa Epimerase Deficiency

ClinVar genetic disease variations for Methylmalonyl-Coa Epimerase Deficiency:

6 (showing 31, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MCEE NC_000002.12:g.(?_71109950)_(71130239_?)del Deletion Pathogenic 833393 GRCh37: 2:71337080-71357369
GRCh38:
2 MCEE NM_032601.4(MCEE):c.419del (p.Lys140fs) Deletion Pathogenic 1028967 GRCh37: 2:71337212-71337212
GRCh38: 2:71110082-71110082
3 MCEE NM_032601.4(MCEE):c.139C>T (p.Arg47Ter) SNV Pathogenic 2343 rs111033538 GRCh37: 2:71351575-71351575
GRCh38: 2:71124445-71124445
4 MCEE NM_032601.4(MCEE):c.102C>G (p.Pro34=) SNV Conflicting interpretations of pathogenicity 195391 rs146573280 GRCh37: 2:71351612-71351612
GRCh38: 2:71124482-71124482
5 MCEE NM_032601.4(MCEE):c.3G>A (p.Met1Ile) SNV Uncertain significance 1003508 GRCh37: 2:71357347-71357347
GRCh38: 2:71130217-71130217
6 MCEE NM_032601.4(MCEE):c.226_227delinsAT (p.Ala76Met) Indel Uncertain significance 1007045 GRCh37: 2:71351487-71351488
GRCh38: 2:71124357-71124358
7 MCEE NM_032601.4(MCEE):c.520G>C (p.Glu174Gln) SNV Uncertain significance 336935 rs200334627 GRCh37: 2:71337111-71337111
GRCh38: 2:71109981-71109981
8 MCEE NM_032601.4(MCEE):c.41-9A>G SNV Uncertain significance 1025357 GRCh37: 2:71351682-71351682
GRCh38: 2:71124552-71124552
9 MCEE NM_032601.4(MCEE):c.376G>A (p.Glu126Lys) SNV Uncertain significance 1045912 GRCh37: 2:71351338-71351338
GRCh38: 2:71124208-71124208
10 MCEE NM_032601.4(MCEE):c.345C>A (p.Asn115Lys) SNV Uncertain significance 1064290 GRCh37: 2:71351369-71351369
GRCh38: 2:71124239-71124239
11 MCEE NM_032601.4(MCEE):c.312T>G (p.Arg104=) SNV Uncertain significance 336938 rs142838031 GRCh37: 2:71351402-71351402
GRCh38: 2:71124272-71124272
12 MCEE NM_032601.4(MCEE):c.271C>A (p.Leu91Met) SNV Uncertain significance 336939 rs200681141 GRCh37: 2:71351443-71351443
GRCh38: 2:71124313-71124313
13 MCEE NM_032601.4(MCEE):c.235C>G (p.Leu79Val) SNV Uncertain significance 643880 rs369078225 GRCh37: 2:71351479-71351479
GRCh38: 2:71124349-71124349
14 MCEE NM_032601.4(MCEE):c.311G>A (p.Arg104His) SNV Uncertain significance 649586 rs6748672 GRCh37: 2:71351403-71351403
GRCh38: 2:71124273-71124273
15 MCEE NM_032601.4(MCEE):c.10G>T (p.Val4Leu) SNV Uncertain significance 655143 rs202194538 GRCh37: 2:71357340-71357340
GRCh38: 2:71130210-71130210
16 MCEE NM_032601.4(MCEE):c.136G>A (p.Gly46Ser) SNV Uncertain significance 336940 rs772033573 GRCh37: 2:71351578-71351578
GRCh38: 2:71124448-71124448
17 MCEE NM_032601.4(MCEE):c.368T>A (p.Ile123Asn) SNV Uncertain significance 336937 rs886056277 GRCh37: 2:71351346-71351346
GRCh38: 2:71124216-71124216
18 MCEE NM_032601.4(MCEE):c.*64A>C SNV Uncertain significance 896730 GRCh37: 2:71337036-71337036
GRCh38: 2:71109906-71109906
19 MCEE NM_032601.4(MCEE):c.440A>G (p.Glu147Gly) SNV Uncertain significance 896731 GRCh37: 2:71337191-71337191
GRCh38: 2:71110061-71110061
20 MCEE NM_032601.4(MCEE):c.352G>C (p.Gly118Arg) SNV Uncertain significance 897201 GRCh37: 2:71351362-71351362
GRCh38: 2:71124232-71124232
21 MCEE NM_032601.4(MCEE):c.164T>C (p.Val55Ala) SNV Uncertain significance 897202 GRCh37: 2:71351550-71351550
GRCh38: 2:71124420-71124420
22 MCEE NM_032601.4(MCEE):c.66C>T (p.Pro22=) SNV Uncertain significance 898375 GRCh37: 2:71351648-71351648
GRCh38: 2:71124518-71124518
23 MCEE NM_032601.4(MCEE):c.41-13T>A SNV Likely benign 898376 GRCh37: 2:71351686-71351686
GRCh38: 2:71124556-71124556
24 MCEE NM_032601.4(MCEE):c.180G>A (p.Lys60=) SNV Likely benign 792271 rs778261717 GRCh37: 2:71351534-71351534
GRCh38: 2:71124404-71124404
25 MCEE NM_032601.4(MCEE):c.178A>C (p.Lys60Gln) SNV Likely benign 203812 rs147401037 GRCh37: 2:71351536-71351536
GRCh38: 2:71124406-71124406
26 MCEE NM_032601.4(MCEE):c.427C>T (p.Arg143Cys) SNV Benign/Likely benign 203810 rs138436961 GRCh37: 2:71337204-71337204
GRCh38: 2:71110074-71110074
27 MCEE NM_032601.4(MCEE):c.120T>C (p.Gly40=) SNV Benign/Likely benign 729893 rs373053776 GRCh37: 2:71351594-71351594
GRCh38: 2:71124464-71124464
28 MCEE NM_032601.4(MCEE):c.227C>T (p.Ala76Val) SNV Benign 138182 rs11541017 GRCh37: 2:71351487-71351487
GRCh38: 2:71124357-71124357
29 MCEE NM_032601.4(MCEE):c.*262G>A SNV Benign 336933 rs72903553 GRCh37: 2:71336838-71336838
GRCh38: 2:71109708-71109708
30 MCEE NM_032601.4(MCEE):c.311G>T (p.Arg104Leu) SNV Benign 138183 rs6748672 GRCh37: 2:71351403-71351403
GRCh38: 2:71124273-71124273
31 MCEE NM_032601.4(MCEE):c.428G>A (p.Arg143His) SNV Benign 336936 rs115175255 GRCh37: 2:71337203-71337203
GRCh38: 2:71110073-71110073

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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