3-methylcrotonyl-coa Carboxylase 1 Deficiency; Mcc1d

Description

3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.

Clinical Features

Top most frequent phenotypes and symptoms related to 3-methylcrotonyl-coa Carboxylase 1 Deficiency; Mcc1d

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Motor delay
  • Muscular hypotonia
  • Spasticity
  • Feeding difficulties
And another 42 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Based on the latest data available 3-methylcrotonyl-coa Carboxylase 1 Deficiency; Mcc1d have a estimated birth prevalence of 2.65 per 100k worldwide.


Mendelian

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3-methylcrotonyl-coa Carboxylase 1 Deficiency; Mcc1d Recommended genes panels

Panel Name, Specifity and genes Tested/covered
3-Methylcrotonyl-CoA Carboxylase Deficiency Panel Deletion/Duplication Panel.

By Baylor Miraca Genetics Laboratories in United States.

MCCC1, MCCC2
Specificity
100 %
Genes
100 %
3-Methylcrotonyl-CoA Carboxylase Deficiency Comprehensive Panel (Sequencing and Deletion/Duplication Analysis).

By Baylor Miraca Genetics Laboratories in United States.

MCCC1, MCCC2
Specificity
100 %
Genes
100 %
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
MCCC1 & MCCC2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

MCCC1, MCCC2
Specificity
100 %
Genes
100 %
MCCC2 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

MCCC2
Specificity
100 %
Genes
50 %
MCCC2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

MCCC2
Specificity
100 %
Genes
50 %
MCCC2 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

MCCC2
Specificity
100 %
Genes
50 %
MCCC2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

MCCC2
Specificity
100 %
Genes
50 %
3-Methylcrotonylglycinuria.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

MCCC1, MCCC2
Specificity
100 %
Genes
100 %
3-Methylcrotonyl-CoA Carboxylase 2 Deficiency.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

MCCC2
Specificity
100 %
Genes
50 %
3-Methylcrotonyl-CoA Carboxylase (3-MCC) Deficiency.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MCCC1, MCCC2
Specificity
100 %
Genes
100 %
Comprehensive Mitochondrial Metabolic Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, AGL, ACADVL, ACAT1, YARS2, PC, GYS2, UQCRQ, ARG1, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2 , (...)

View the complete list with 176 more genes
Specificity
2 %
Genes
100 %
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

MCCC2, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRQ, UQCRB, ATPAF2, BCKDHA, BCKDHB, BCS1L, TWNK, CPT2, OPA1, TRMU, WFS1, DLD , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
50 %
3-Methylcrotonyl-CoA carboxylase deficiency type 2 (sequence analysis of MCCC2 gene).

By CGC Genetics in Portugal.

MCCC2
Specificity
100 %
Genes
50 %
3-Methylcrotonyl-CoA carboxylase deficiency type 2 (deletion/duplication analysis of MCCC2 gene).

By CGC Genetics in Portugal.

MCCC2
Specificity
100 %
Genes
50 %
3-Methylcrotonyl-CoA carboxylase deficiency type 2 (deletion/duplication analysis of MCCC2 gene).

By CGC Genetics in Portugal.

MCCC2
Specificity
100 %
Genes
50 %
3-Methylcrotonyl-CoA Carboxylase Deficiency Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MCCC1, MCCC2
Specificity
100 %
Genes
100 %
Hyperammonemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MCCC1, MCCC2, ACADM, ACADS, ACADVL, ARG1, HLCS, MMACHC, CPS1, CPT2, SLC25A13, HADHA, TMEM70, HADHB, GLUD1, PCCB, PCCA, HMGCS2, OTC, MMADHC , (...)

View the complete list with 17 more genes
Specificity
6 %
Genes
100 %
Organic Aciduria Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MCCC1, MCCC2, ACAT1, HLCS, BCKDHA, BCKDHB, MMACHC, DLD, ACSF3, ALDH6A1, IDH2, PCCB, PCCA, D2HGDH, MMADHC, MCEE, MMAB, MMAA, MUT, DBT , (...)

View the complete list with 9 more genes
Specificity
7 %
Genes
100 %
3-Methylcrotonyl-CoA Carboxylase Deficiency via the MCCC2 Gene.

By PreventionGenetics PreventionGenetics in United States.

MCCC2
Specificity
100 %
Genes
50 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Comprehensive mitochondrial disorders panel.

By Centogene AG - the Rare Disease Company in Germany.

MCCC1, MCCC2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRB, HLCS, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, STAR, MTRR , (...)

View the complete list with 160 more genes
Specificity
2 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CoA-3-methylcrontonyl carboxylase 2 deficiency.

By Centogene AG - the Rare Disease Company in Germany.

MCCC2
Specificity
100 %
Genes
50 %
Nuclear encoded Mitochondriopathies Panel.

By CeGaT GmbH in Germany.

MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
MCCC2.

By Division Human Genetics Medical University Innsbruck in Austria.

MCCC2
Specificity
100 %
Genes
50 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
100 %
Invitae Organic Acidemias Panel.

By Invitae in United States.

MCCC1, MCCC2, ACAT1, FBP1, HLCS, BTD, AUH, BCKDHA, BCKDHB, MMACHC, HSD17B10, POLG, OPA3, ACSF3, TMEM70, HMGCL, IDH2, SUCLA2, ACAD8, DNAJC19 , (...)

View the complete list with 29 more genes
Specificity
5 %
Genes
100 %
Invitae 3-Methylcrotonyl-CoA Carboxylase Panel.

By Invitae in United States.

MCCC1, MCCC2
Specificity
100 %
Genes
100 %
Invitae Elevated C5-OH Panel.

By Invitae in United States.

MCCC1, MCCC2, ACAT1, HLCS, BTD, AUH, HSD17B10, OPA3, HMGCL, DNAJC19, TAZ, SERAC1
Specificity
17 %
Genes
100 %
Invitae Metabolic Disorders Newborn Screening Confirmation Panel.

By Invitae in United States.

MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, PC, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, MMACHC, MTR, MTRR, CPS1, CPT2, PRODH , (...)

View the complete list with 70 more genes
Specificity
3 %
Genes
100 %
Invitae Treatable Neurometabolic Disorders Panel.

By Invitae in United States.

MTHFR, MCCC1, MCCC2, ACAT1, ARG1, HLCS, ATP7A, BTD, ATP7B, AUH, BCKDHA, BCKDHB, MMACHC, AMN, MTR, MTRR, CPS1, HSD17B10, DLD, SLC25A13 , (...)

View the complete list with 72 more genes
Specificity
3 %
Genes
100 %
3-methylcrotonyl-coA carboxylase deficiency: MCCC2 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

MCCC2
Specificity
100 %
Genes
50 %
3-methylcrotonyl-coA carboxylase deficiency: MCCC1 and MCCC2 genes sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

MCCC1, MCCC2
Specificity
100 %
Genes
100 %
ORGANIC ACIDEMIAS.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

MCCC1, MCCC2, ACAT1, BCKDHA, BCKDHB, MMACHC, HMGCL, PCCB, PCCA, MMAB, MMAA, MUT, DBT, IVD, GCDH
Specificity
14 %
Genes
100 %
3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC): MCCC1/MCCC2 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MCCC1, MCCC2
Specificity
100 %
Genes
100 %
3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC): MCCC1/MCCC2 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MCCC1, MCCC2
Specificity
100 %
Genes
100 %
Inherited Metabolic Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, PC, GYS2, HLCS, ATPAF2, AUH, BCKDHA, BCKDHB, GAA, MMACHC, MTR, SLC37A4, MTRR , (...)

View the complete list with 81 more genes
Specificity
2 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
100 %
3-Methylcrotonyl, CoA Carboxylase Deficiency NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MCCC1, MCCC2
Specificity
100 %
Genes
100 %
MCCC2.

By Fulgent Genetics Fulgent Genetics in United States.

MCCC2
Specificity
100 %
Genes
50 %
Hyperammonemia and Urea Cycle Disorder Panel.

By Blueprint Genetics in Finland.

MCCC1, MCCC2, ACADM, ACADS, ACADVL, PC, ARG1, HLCS, BCKDHA, BCKDHB, MMACHC, CPS1, CPT2, DLD, SLC25A13, HADHA, TMEM70, HMGCL, SUCLA2, HADHB , (...)

View the complete list with 28 more genes
Specificity
5 %
Genes
100 %
Organic Acidemia/Aciduria & Cobalamin Deficiency Panel.

By Blueprint Genetics in Finland.

MTHFR, MCCC1, MCCC2, ACAT1, BCKDHA, BCKDHB, BCS1L, MMACHC, AMN, MTR, MTRR, DLD, ACSF3, HMGCL, IDH2, ACADSB, PCCB, PCCA, D2HGDH, MMADHC , (...)

View the complete list with 33 more genes
Specificity
4 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
100 %
Baby Genes Targeted Panel.

By Baby Genes Inc. Baby Genes Inc. in United States.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, DLD, SLC25A13 , (...)

View the complete list with 70 more genes
Specificity
3 %
Genes
100 %
3-Methylcrotonyl-CoA Carboxylase Deficiency NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

MCCC1, MCCC2
Specificity
100 %
Genes
100 %
MCCC2 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

MCCC2
Specificity
100 %
Genes
50 %
METHYLCROTONYLGLYCINURIA (3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY).

By Laboratorio de Genetica Clinica SL in Spain.

MCCC1, MCCC2
Specificity
100 %
Genes
100 %
3-Methylcrotonyl-CoA Carboxylase Beta Deficiency, Sequencing MCCC2 Gene.

By Reference Laboratory Genetics in Spain.

MCCC2
Specificity
100 %
Genes
50 %
Organic Acidemias , Panel Massive Sequencing (NGS) 15 Genes.

By Reference Laboratory Genetics in Spain.

MCCC1, MCCC2, ACAT1, BCKDHA, BCKDHB, MMACHC, HMGCL, PCCA, MMAB, MMAA, MUT, DBT, IVD, GCDH
Specificity
15 %
Genes
100 %
CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, HSD17B10 , (...)

View the complete list with 79 more genes
Specificity
3 %
Genes
100 %
CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, HSD17B10 , (...)

View the complete list with 84 more genes
Specificity
2 %
Genes
100 %
3-methylcrotonyl-CoA carboxylase deficiency: gene sequencing panel (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MCCC1, MCCC2
Specificity
100 %
Genes
100 %
3-methylcrotonyl-CoA carboxylase deficiency: gene sequencing panel (RAPID testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MCCC1, MCCC2
Specificity
100 %
Genes
100 %
3-Methylcrotonyl-CoA carboxylase 2 deficiency (MCC2D): Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MCCC2
Specificity
100 %
Genes
50 %
MCCC1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

MCCC1
Specificity
100 %
Genes
50 %
MCCC1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

MCCC1
Specificity
100 %
Genes
50 %
MCCC1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

MCCC1
Specificity
100 %
Genes
50 %
MCCC1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

MCCC1
Specificity
100 %
Genes
50 %
3-Methylcrotonyl-CoA Carboxylase 1 Deficiency.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

MCCC1
Specificity
100 %
Genes
50 %
3-Methylcrotonyl-CoA carboxylase deficiency (sequence analysis of MCCC1 gene).

By CGC Genetics in Portugal.

MCCC1
Specificity
100 %
Genes
50 %
3-Methylcrotonyl-CoA Carboxylase Deficiency via MCCC1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MCCC1
Specificity
100 %
Genes
50 %
CoA-3-methylcrontonyl carboxylase 1 deficiency.

By Centogene AG - the Rare Disease Company in Germany.

MCCC1
Specificity
100 %
Genes
50 %
Epilepsy.

By Asper Biogene Asper Biogene LLC in Estonia.

UBE3A, MCCC1, ADSL, TUBB3, POLG, MECP2, GAMT, GATM, STXBP1, SLC25A22, ALG3, SLC9A6, ALDH7A1, MOCS2, MOCS1, WWOX, SLC6A8, ARX, CDKL5, FOXG1 , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
50 %
MCCC1.

By Division Human Genetics Medical University Innsbruck in Austria.

MCCC1
Specificity
100 %
Genes
50 %
3-methylcrotonyl-coA carboxylase deficiency: MCCC1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

MCCC1
Specificity
100 %
Genes
50 %
MCCC1.

By Fulgent Genetics Fulgent Genetics in United States.

MCCC1
Specificity
100 %
Genes
50 %
MCCC1 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

MCCC1
Specificity
100 %
Genes
50 %
3-Methylcrotonyl-CoA Carboxylase Deficiency, Sequencing MCCC1 Gene.

By Reference Laboratory Genetics in Spain.

MCCC1
Specificity
100 %
Genes
50 %
3-Methylcrotonyl-CoA carboxylase 1 deficiency (MCC1D): Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MCCC1
Specificity
100 %
Genes
50 %

Alternate names

3-methylcrotonyl-coa Carboxylase 1 Deficiency; Mcc1d Is also known as mccd type 1, mcc1 deficiency, 3-methylcrotonylglycinuria i, methylcrotonylglycinuria type i;3-methylcrotonylglycinuria; mcc deficiency; mccd.


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