2-methylbutyryl-coa Dehydrogenase Deficiency

Description

2-Methylbutyryl-CoA dehydrogenase (MBD) deficiency is an autosomal recessive metabolic disorder of impaired isoleucine degradation. It is most often ascertained via newborn screening and is usually clinically asymptomatic, although some patients have been reported to have delayed development and neurologic signs. Therefore, the clinical relevance of the deficiency is unclear (Sass et al.., 2008).

Clinical Features

Top most frequent phenotypes and symptoms related to 2-methylbutyryl-coa Dehydrogenase Deficiency

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Strabismus
  • Motor delay
  • Muscular hypotonia
  • Feeding difficulties
  • Skeletal muscle atrophy
  • Hypoglycemia
And another 8 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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2-methylbutyryl-coa Dehydrogenase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®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 %
ACADSB Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ACADSB
Specificity
100 %
Genes
100 %
ACADSB Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ACADSB
Specificity
100 %
Genes
100 %
ACADSB Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ACADSB
Specificity
100 %
Genes
100 %
ACADSB Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ACADSB
Specificity
100 %
Genes
100 %
ACADSB Sequence and Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ACADSB
Specificity
100 %
Genes
100 %
ACADSB Gene Sequencing.

By GeneDx in United States.

ACADSB
Specificity
100 %
Genes
100 %
Disorders of Fatty Acid Oxidation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, PPARG, CPT2, HSD17B10, HADHA, HMGCL, ACADSB, HADHB, HMGCS2, TAZ, LPIN1, CPT1A, MLYCD, ETFB, ETFA , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
2-Methylbutyryl-CoA dehydrogenase (ACADSB ) deficiency.

By VU University Medical Center Metabolic Unit, PX 1X 009 in Netherlands.

ACADSB
Specificity
100 %
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
1 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
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 %
2-methylbutyrylglycinuria.

By Centogene AG - the Rare Disease Company in Germany.

ACADSB
Specificity
100 %
Genes
100 %
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 %
ACADSB.

By Division Human Genetics Medical University Innsbruck in Austria.

ACADSB
Specificity
100 %
Genes
100 %
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
3 %
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
2 %
Genes
100 %
Invitae Fatty Acid Oxidation Defects Panel.

By Invitae in United States.

ACADM, ACADS, ACADVL, CPT2, HADHA, HMGCL, ACADSB, HADHB, HMGCS2, CPT1A, MLYCD, ETFB, ETFA, ETFDH, SLC22A5, SLC25A20, HADH, NADK2
Specificity
6 %
Genes
100 %
Invitae Elevated C5 Panel.

By Invitae in United States.

ACADSB, IVD
Specificity
50 %
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 %
ACADSB.

By Fulgent Genetics Fulgent Genetics in United States.

ACADSB
Specificity
100 %
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
2 %
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 %
Fatty Acid Oxidation Syndrome Panel.

By Blueprint Genetics in Finland.

ACAD9, ACADL, ACADM, ACADS, ACADVL, PPARG, CPT2, HSD17B10, HADHA, HMGCL, ACAD8, ACADSB, HADHB, GLUD1, HMGCS2, TAZ, ALDH5A1, LPIN1, CPT1A, ETFB , (...)

View the complete list with 6 more genes
Specificity
4 %
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
2 %
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
2 %
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
1 %
Genes
100 %
2-methylbutyryl-CoA Dehydrogenase Deficiency: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ACADSB
Specificity
100 %
Genes
100 %

Alternate names

2-methylbutyryl-coa Dehydrogenase Deficiency Is also known as 2-methylbutyryl glycinuria, short/branched-chain acyl-coa dehydrogenase deficiency;sbcadd;2-methylbutyric aciduria; developmental delay due to 2-methylbutyryl-coa dehydrogenase deficiency; sbcad deficiency; short/branched-chain acyl-coa dehydrogenase deficiency.



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