ACADSB gene related symptoms and diseases

All the information presented here about the ACADSB gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ACADSB gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Apnea Very Common - Between 80% and 100% cases
Hyperglycinuria Very Common - Between 80% and 100% cases
Hypothermia Very Common - Between 80% and 100% cases
Poor eye contact Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ACADSB gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Generalized amyotrophy
  • Exotropia
  • Coma
  • Lethargy
  • Irritability
  • Hypoglycemia
  • Global developmental delay
  • Vomiting

And 9 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ACADSB gene

Here you will find a list of rare diseases related to the ACADSB. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


2-METHYLBUTYRYL-COA DEHYDROGENASE DEFICIENCY


Alternate names

2-METHYLBUTYRYL-COA DEHYDROGENASE DEFICIENCY Is also known as sbcadd, sbcad deficiency, short/branched-chain acyl-coa dehydrogenase deficiency, developmental delay due to 2-methylbutyryl-coa dehydrogenase deficiency, 2-methylbutyric aciduria, 2-methylbutyryl glycinuria

Description

2-Methylbutyryl-CoA dehydrogenase (or Short/branched-chain acyl-coA dehydrogenase; SBCAD) deficiency is characterized by increased urinary excretion of 2-methylbutyrylglycine, and increased whole blood and plasma concentrations of 2-methylbutyryl (C5) carnitine. It has been described in less than 30 patients, mostly from the Hmong population, an ethnic group of Chinese origin. The phenotype is not well defined, ranging from completely asymptomatic patients to those with muscle hypotonia, cerebral palsy, developmental delay, lethargy, hypoglycemia, and metabolic acidosis. The disorder is transmitted as an autosomal recessive trait. The SBCAD enzyme catalyzes the conversion of 2-methylbutyryl-CoA to tiglyl-CoA in the isoleucine catabolic pathway. Mutations in the SBCAD gene (located on chromosome 10q25-26) have been reported in affected patients. Treatment includes carnitine supplementation and a low-protein diet.

Most common symptoms of 2-METHYLBUTYRYL-COA DEHYDROGENASE DEFICIENCY

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Strabismus


More info about 2-METHYLBUTYRYL-COA DEHYDROGENASE DEFICIENCY

SOURCES: OMIM ORPHANET MESH


Potential gene panels for ACADSB gene

MitoMet®Plus aCGH Analysis Panel

United States.

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

ACADSB Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ACADSB gene.

More info about this panel

ACADSB Familial Mutation/Variant Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ACADSB gene.

More info about this panel

ACADSB Prenatal Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ACADSB gene.

More info about this panel

ACADSB Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ACADSB gene.

More info about this panel

ACADSB Sequence and Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ACADSB gene.

More info about this panel

ACADSB Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the ACADSB gene.

More info about this panel

Disorders of Fatty Acid Oxidation Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Fatty Acid Oxidation Sequencing Panel with CNV Detection that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ACAD9 CPT1A CPT2 FLAD1 DECR1 ECHS1

More info about this panel

2-Methylbutyryl-CoA dehydrogenase (ACADSB ) deficiency Panel

Netherlands.

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

This panel specifically test the ACADSB gene.

More info about this panel

Comprehensive mitochondrial disorders panel Panel

Germany.

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

AllNeuro panel Panel

Germany.

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

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

2-methylbutyrylglycinuria Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ACADSB gene.

More info about this panel

Nuclear encoded Mitochondriopathies Panel Panel

Germany.

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

ACADSB Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the ACADSB gene.

More info about this panel

qCarrier Plus Panel

Spain.

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

Invitae Organic Acidemias Panel Panel

United States.

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

Invitae Metabolic Disorders Newborn Screening Confirmation Panel Panel

United States.

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

Invitae Fatty Acid Oxidation Defects Panel Panel

United States.

By Invitae Invitae Fatty Acid Oxidation Defects Panel that also includes the following genes: SLC22A5 SLC25A20 CPT1A CPT2 NADK2 ETFA ETFB ETFDH HADH HADHA

More info about this panel

Invitae Elevated C5 Panel Panel

United States.

By Invitae Invitae Elevated C5 Panel that also includes the following genes: IVD ACADSB

More info about this panel

Nuclear-Mito NGS Panel Panel

United States.

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

ACADSB Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ACADSB gene.

More info about this panel

Organic Acidemia/Aciduria & Cobalamin Deficiency Panel Panel

Finland.

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

Comprehensive Metabolism Panel Panel

Finland.

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

Fatty Acid Oxidation Syndrome Panel Panel

Finland.

By Blueprint Genetics Fatty Acid Oxidation Syndrome Panel that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ACAD9 CPT1A CPT2 ECHS1 ETFA ETFB

More info about this panel

Baby Genes Targeted Panel Panel

United States.

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

CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel

Canada.

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

CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel

Canada.

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

2-methylbutyryl-CoA Dehydrogenase Deficiency: Full gene sequencing (Rapid testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the ACADSB gene.

More info about this panel


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