ACAD8 gene related symptoms and diseases
All the information presented here about the ACAD8 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ACAD8 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Dilated cardiomyopathy | Very Common - Between 80% and 100% cases |
| Pyelonephritis | Very Common - Between 80% and 100% cases |
| Peripheral pulmonary artery stenosis | Very Common - Between 80% and 100% cases |
| Decreased plasma carnitine | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ACAD8 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Mild global developmental delay
- Cardiomegaly
- Dehydration
- Asthma
- Pulmonic stenosis
- Vomiting
- Global developmental delay
- Atrial septal defect
And 8 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ACAD8 gene
Here you will find a list of rare diseases related to the ACAD8. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY
Alternate names
ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY Is also known as ibd deficiency, acad8 deficiency, acyl-coa dehydrogenase family, member 8, deficiency of, isobutyric aciduria
Description
Isobutyryl-CoA dehydrogenase deficiency is an inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).
Most common symptoms of ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY
- Seizures
- Global developmental delay
- Generalized hypotonia
- Failure to thrive
- Muscular hypotonia
More info about ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY
Search interest in ACAD8
Potential gene panels for ACAD8 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 United States.
ACAD8 Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ACAD8 gene.
More info about this panel United States.
ACAD8 Familial Mutation/Variant Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ACAD8 gene.
More info about this panel United States.
ACAD8 Prenatal Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ACAD8 gene.
More info about this panel United States.
ACAD8 Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ACAD8 gene.
More info about this panel United States.
ACAD8 Sequence and Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ACAD8 gene.
More info about this panel United States.
ACAD8 Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the ACAD8 gene.
More info about this panel United States.
ACAD8. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ACAD8 gene.
More info about this panel Spain.
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 Germany.
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 Germany.
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 Germany.
Isobutyryl-CoA dehydrogenase deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ACAD8 gene.
More info about this panel Germany.
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 Germany.
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 United States.
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 United States.
Invitae Elevated C4 Panel Panel
United States.
By Invitae Invitae Elevated C4 Panel that also includes the following genes: ETHE1 ACAD8 ACADS
More info about this panel United States.
Isobutyryl Co-A Dehydrogenase Deficiency: ACAD8 Full Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the ACAD8 gene.
More info about this panel United States.
Isobutyryl Co-A Dehydrogenase Deficiency: ACAD8 Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the ACAD8 gene.
More info about this panel United States.
Amyotrophic Lateral Sclerosis NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Amyotrophic Lateral Sclerosis NGS Panel that also includes the following genes: ATXN2 SOD1 TARDBP UBQLN2 VAPB VCP ABCG5 ABHD12 FIG4 OPTN
More info about this panel United States.
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 United States.
ACAD8 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ACAD8 gene.
More info about this panel United States.
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 Finland.
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 Finland.
Isobutyryl-CoA dehydrogenase deficiency Panel
Spain.
By Bioarray
This panel specifically test the ACAD8 gene.
More info about this panel Spain.
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 United States.
ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the ACAD8 gene.
More info about this panel Spain.
Isobutyric Acidemia, Sequencing ACAD8 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ACAD8 gene.
More info about this panel Spain.
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 Canada.
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 Canada.
Isobutyryl-CoA dehydrogenase deficiency: Full gene sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the ACAD8 gene.
More info about this panel Canada.
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