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
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 panelACAD8 Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the ACAD8 gene.
More info about this panelACAD8 Familial Mutation/Variant Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the ACAD8 gene.
More info about this panelACAD8 Prenatal Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the ACAD8 gene.
More info about this panelACAD8 Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the ACAD8 gene.
More info about this panelACAD8 Sequence and Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the ACAD8 gene.
More info about this panelACAD8 Gene Sequencing Panel
By GeneDx
This panel specifically test the ACAD8 gene.
More info about this panelACAD8. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ACAD8 gene.
More info about this panelComprehensive mitochondrial disorders panel Panel
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 panelCentoICU platinum plus Panel
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 panelNew Born testing (CentoICU) Panel
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 panelIsobutyryl-CoA dehydrogenase deficiency Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ACAD8 gene.
More info about this panelNuclear encoded Mitochondriopathies Panel Panel
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 panelInvitae Organic Acidemias Panel Panel
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 panelInvitae Metabolic Disorders Newborn Screening Confirmation Panel Panel
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 panelInvitae Elevated C4 Panel Panel
By Invitae Invitae Elevated C4 Panel that also includes the following genes: ETHE1 ACAD8 ACADS
More info about this panelIsobutyryl Co-A Dehydrogenase Deficiency: ACAD8 Full Gene Sequencing Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the ACAD8 gene.
More info about this panelIsobutyryl Co-A Dehydrogenase Deficiency: ACAD8 Gene Deletion/Duplication Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the ACAD8 gene.
More info about this panelAmyotrophic Lateral Sclerosis NGS Panel Panel
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 panelNuclear-Mito NGS Panel Panel
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 panelACAD8 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ACAD8 gene.
More info about this panelComprehensive Metabolism Panel Panel
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 panelFatty Acid Oxidation Syndrome Panel Panel
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 panelIsobutyryl-CoA dehydrogenase deficiency Panel
By Bioarray
This panel specifically test the ACAD8 gene.
More info about this panelBaby Genes Targeted Panel Panel
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 panelISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the ACAD8 gene.
More info about this panelIsobutyric Acidemia, Sequencing ACAD8 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the ACAD8 gene.
More info about this panelCEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel
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 panelCEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel
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 panelIsobutyryl-CoA dehydrogenase deficiency: Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the ACAD8 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TRIM27 TRPV3 NGLY1 CACNA1S DMRT2 CRH WDR60