MCEE gene related symptoms and diseases
All the information presented here about the MCEE gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MCEE gene
Symptoms // Phenotype | % Cases |
---|---|
Failure to thrive | Very Common - Between 80% and 100% cases |
Gastroesophageal reflux | Very Common - Between 80% and 100% cases |
Methylmalonic aciduria | Very Common - Between 80% and 100% cases |
Ketonuria | Very Common - Between 80% and 100% cases |
Tachypnea | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with MCEE gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Dehydration
- Aciduria
- Metabolic acidosis
- Acidosis
- Spasticity
- Dystonia
- Diarrhea
- Vomiting
And 4 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MCEE gene
Here you will find a list of rare diseases related to the MCEE. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-COA EPIMERASE DEFICIENCY
Alternate names
METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-COA EPIMERASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa racemase deficiency, methylmalonyl-coa racemase deficiency, methylmalonic aciduria due to methylmalonyl-coa racemase deficiency, methylmalonic aciduria due to methylmalonyl-coa epimerase deficiency, mcee deficie
Description
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.
Most common symptoms of METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-COA EPIMERASE DEFICIENCY
- Failure to thrive
- Spasticity
- Motor delay
- Macrocephaly
- Hydrocephalus
More info about METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-COA EPIMERASE DEFICIENCY
Search interest in MCEE
Potential gene panels for MCEE gene
MitoMet®Plus aCGH Analysis Panel
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By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel![](/img/flags/United-states.png)
MCEE Comprehensive - Sequence & Deletion/Duplication Analysis Panel
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By Baylor Miraca Genetics Laboratories
This panel specifically test the MCEE gene.
More info about this panel![](/img/flags/United-states.png)
MCEE Deletion/Duplication Analysis Panel
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By Baylor Miraca Genetics Laboratories
This panel specifically test the MCEE gene.
More info about this panel![](/img/flags/United-states.png)
MCEE Sequence Analysis Panel
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By Baylor Miraca Genetics Laboratories
This panel specifically test the MCEE gene.
More info about this panel![](/img/flags/United-states.png)
MCEE Sequence Analysis (Prenatal Diagnosis) Panel
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By Baylor Miraca Genetics Laboratories
This panel specifically test the MCEE gene.
More info about this panel![](/img/flags/United-states.png)
Methylmalonic Acidemia Sequencing NextGen Panel Panel
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By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado Methylmalonic Acidemia Sequencing NextGen Panel that also includes the following genes: SUCLA2 TCN1 TCN2 CBS CD320 MCEE MMAA MMAB ACSF3 CBLIF
More info about this panel![](/img/flags/United-states.png)
Epimerase Deficiency - MCEE Sequencing Panel
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By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the MCEE gene.
More info about this panel![](/img/flags/United-states.png)
Dystonia Exome Panel Panel
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By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8
More info about this panel![](/img/flags/United-states.png)
Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication Panel
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By ARUP Laboratories, Molecular Genetics and Genomics Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication that also includes the following genes: SUCLA2 SUCLG1 TCN1 TCN2 AMN CBS MCEE MMAA MMAB LMBRD1
More info about this panel![](/img/flags/United-states.png)
MCEE. Complete sequencing Panel
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By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the MCEE gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Methylmalonic aciduria (NGS panel for 15 genes) Panel
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By CGC Genetics Methylmalonic aciduria (NGS panel for 15 genes) that also includes the following genes: SUCLA2 SUCLG1 CD320 MCEE MMAA MMAB LMBRD1 MMACHC MMADHC ACSF3
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
MCEE-Related Methylmalonic Acidemia Panel
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By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center
This panel specifically test the MCEE gene.
More info about this panel![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
Methylmalonic Acidemia Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Methylmalonic Acidemia Sequencing Panel with CNV Detection that also includes the following genes: SUCLA2 SUCLG1 CD320 MCEE MMAA MMAB MMADHC ACSF3 MLYCD ALDH6A1
More info about this panel![](/img/flags/United-states.png)
Methlymalonyl-CoA Epimerase Deficiency via MCEE Gene Sequencing with CNV Detection Panel
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By PreventionGenetics PreventionGenetics
This panel specifically test the MCEE gene.
More info about this panel![](/img/flags/United-states.png)
Organic Aciduria Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Organic Aciduria Sequencing Panel with CNV Detection that also includes the following genes: SLC25A1 CD320 MCEE MMAA MMAB L2HGDH MMACHC MMADHC DBT ACSF3
More info about this panel![](/img/flags/United-states.png)
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel with CNV Detection that also includes the following genes: SUCLA2 SUCLG1 TCN1 TCN2 AMN CBS CD320 MCEE MMAA MMAB
More info about this panel![](/img/flags/United-states.png)
Neurogenetic Disorders - panels Panel
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By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Methylmalonic Acidemia Sequential Panel Panel
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By FirmaLab Methylmalonic Acidemia Sequential Panel that also includes the following genes: MCEE MMAA MMAB MMACHC MMUT
More info about this panel![](/img/flags/United-states.png)
Comprehensive mitochondrial disorders panel Panel
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By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
AllNeuro panel Panel
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By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Nuclear encoded Mitochondriopathies Panel Panel
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By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Methylmalonic Aciduria and Homocystinuria Panel
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By Asper Biogene Asper Biogene LLC Methylmalonic Aciduria and Homocystinuria that also includes the following genes: SUCLA2 SUCLG1 TCN1 TCN2 AMN CBS CD320 MCEE MMAA MMAB
More info about this panel![](/img/flags/Estonia.png.pagespeed.ce.3UWOPDUuUk.png)
qCarrier Plus Panel
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By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Invitae Organic Acidemias Panel Panel
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By Invitae Invitae Organic Acidemias Panel that also includes the following genes: SLC25A1 BTD SUCLA2 SUCLG1 TAZ MCEE MMAA MMAB L2HGDH SERAC1
More info about this panel![](/img/flags/United-states.png)
Invitae Methylmalonic Acidemia Panel Panel
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By Invitae Invitae Methylmalonic Acidemia Panel that also includes the following genes: SUCLA2 SUCLG1 MCEE MMAA MMAB MMADHC MMUT
More info about this panel![](/img/flags/United-states.png)
Invitae Metabolic Disorders Newborn Screening Confirmation Panel Panel
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By Invitae Invitae Metabolic Disorders Newborn Screening Confirmation Panel that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SMPD1 BTD SPR SUCLA2 SUCLG1 TAT TAZ
More info about this panel![](/img/flags/United-states.png)
Inherited Metabolic Disorders: Sequencing Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Inherited Metabolic Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SLC22A5 SLC25A13 SLC25A15 SLC7A7 SMPD1 SUCLG1 TAZ LPIN1
More info about this panel![](/img/flags/United-states.png)
Cobalamin Homocysteine Methionine Deficiency NGS Panel Panel
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By Fulgent Genetics Fulgent Genetics Cobalamin Homocysteine Methionine Deficiency NGS Panel that also includes the following genes: TCN2 CBS CD320 MCEE MMAA MMAB LMBRD1 MMACHC CTH MMADHC
More info about this panel![](/img/flags/United-states.png)
Methylmalonic Acid Metabolism NGS Panel Panel
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By Fulgent Genetics Fulgent Genetics Methylmalonic Acid Metabolism NGS Panel that also includes the following genes: SUCLA2 SUCLG1 TCN2 CD320 MCEE MMAA MMAB LMBRD1 MMACHC MMADHC
More info about this panel![](/img/flags/United-states.png)
Nuclear-Mito NGS Panel Panel
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By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel![](/img/flags/United-states.png)
MCEE Panel
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By Fulgent Genetics Fulgent Genetics
This panel specifically test the MCEE gene.
More info about this panel![](/img/flags/United-states.png)
Organic Acidemia/Aciduria & Cobalamin Deficiency Panel Panel
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By Blueprint Genetics Organic Acidemia/Aciduria & Cobalamin Deficiency Panel that also includes the following genes: BCS1L SLC25A1 SUCLG1 TCN2 UMPS AMN CBS SUGCT CD320 MCEE
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Comprehensive Metabolism Panel Panel
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By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
METHYLMALONYL-CoA EPIMERASE DEFICIENCY Panel
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By Bioarray
This panel specifically test the MCEE gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Baby Genes Targeted Panel Panel
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By Baby Genes Inc. Baby Genes Inc. Baby Genes Targeted Panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG
More info about this panel![](/img/flags/United-states.png)
METHYLMALONIC ACIDEMIA, VITAMIN B12-UNRESPONSIVE Panel
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By Laboratorio de Genetica Clinica SL METHYLMALONIC ACIDEMIA, VITAMIN B12-UNRESPONSIVE that also includes the following genes: MCEE MMUT
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
METHYLMALONIC ACIDEMIA: NGS PANEL Panel
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By Laboratorio de Genetica Clinica SL METHYLMALONIC ACIDEMIA: NGS PANEL that also includes the following genes: SUCLA2 SUCLG1 CD320 MCEE MMAA MMAB LMBRD1 MMACHC MMADHC ACSF3
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel
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By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 DUOX2
More info about this panel![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel
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By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG
More info about this panel![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
Methylmalonyl-CoA epimerase deficiency: Full gene sequencing (Rapid testing) Panel
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By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the MCEE gene.
More info about this panel![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
Isolated Methylmalonic Acidemia: gene sequencing panel Panel
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By CEN4GEN Institute for Genomics and Molecular Diagnostics Isolated Methylmalonic Acidemia: gene sequencing panel that also includes the following genes: MCEE MMAA MMAB MMADHC MMUT
More info about this panel![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
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