ACADL gene related symptoms and diseases
All the information presented here about the ACADL gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ACADL gene
Symptoms // Phenotype | % Cases |
---|---|
Generalized hypotonia | Very Common - Between 80% and 100% cases |
EMG: myopathic abnormalities | Very Common - Between 80% and 100% cases |
Decreased activity of 3-hydroxyacyl-CoA dehydrogenase | Very Common - Between 80% and 100% cases |
Elevated creatine kinase after exercise | Very Common - Between 80% and 100% cases |
Hepatocellular necrosis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ACADL gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Exercise-induced rhabdomyolysis
- Exercise-induced myoglobinuria
- Nonketotic hypoglycemia
- Dicarboxylic aciduria
- Decreased plasma carnitine
- Atrial flutter
- Hypothermia
- Fatigable weakness
And 18 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ACADL gene
Here you will find a list of rare diseases related to the ACADL. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY
Alternate names
LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY Is also known as lcad
Description
A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.
Most common symptoms of LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY
- Generalized hypotonia
- Feeding difficulties
- Hepatomegaly
- Myopathy
- Vomiting
More info about LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY
SOURCES: ORPHANET
Search interest in ACADL
Potential gene panels for ACADL gene
ACADL Comprehensive - Sequence & Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the ACADL gene.
More info about this panelACADL Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the ACADL gene.
More info about this panelACADL Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the ACADL gene.
More info about this panelACADL Sequence Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the ACADL gene.
More info about this panelFatty Acid Oxidation Panel (MitomeNGS) Panel
By Baylor Miraca Genetics Laboratories Fatty Acid Oxidation Panel (MitomeNGS) that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ACAD9 CPT1A CPT1B CPT2 ETFA ETFB
More info about this panelComprehensive Mitochondrial Metabolic Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Mitochondrial Metabolic Panel that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3
More info about this panelFatty Acid Oxidation Deficiency Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Fatty Acid Oxidation Deficiency that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ACAD9 CPT1A CPT1B CPT2 ETFA ETFB
More info about this panelMitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel
By ARUP Laboratories, Molecular Genetics and Genomics Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3
More info about this panelLCAD deficiency (sequence analysis of ACADL gene) Panel
By CGC Genetics
This panel specifically test the ACADL gene.
More info about this panelDisorders of Fatty Acid Oxidation Sequencing Panel with CNV Detection Panel
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 panelLCAD deficiency Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ACADL gene.
More info about this panelAllNeuro panel Panel
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 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 panelMetabolic Myopathies Panel Panel
By CeGaT GmbH Metabolic Myopathies Panel that also includes the following genes: SLC16A1 SLC22A5 TAZ LPIN1 SLC25A20 PUS1 RBCK1 RRM2B ABHD5 ACAD9
More info about this panelMitochondrial Diseases (mtDNA and 133 nuclear genes) Panel
By Asper Biogene Asper Biogene LLC Mitochondrial Diseases (mtDNA and 133 nuclear genes) that also includes the following genes: BCS1L SCO1 SCO2 SDHA SLC25A4 SLC6A8 SOD1 SPG7 SUCLA2 SUCLG1
More info about this panelInherited Metabolic Disorders: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Inherited Metabolic Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SLC22A5 SLC25A13 SLC25A15 SLC7A7 SMPD1 SUCLG1 TAZ LPIN1
More info about this panelMyopathy-Rhabdomyolysis NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Myopathy-Rhabdomyolysis NGS Panel that also includes the following genes: SUCLA2 TWNK TK2 RRM2B ACAD9 CPT1B CPT2 TYMP AGL GAA
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 panelFatty Acid Oxidation Deficiency NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Fatty Acid Oxidation Deficiency NGS Panel that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ACAD9 CPT1A CPT1B CPT2 ETFA ETFB
More info about this panelACADL Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ACADL 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 panelMetabolic Myopathy and Rhabdomyolysis Panel Panel
By Blueprint Genetics Metabolic Myopathy and Rhabdomyolysis Panel that also includes the following genes: RYR1 SCN4A SLC22A5 SUCLA2 TWNK TK2 LPIN1 SLC25A20 CAV3 RBCK1
More info about this panelLONG CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the ACADL 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 FIG4 SPG7 JAK2 ARHGAP24 SALL2 ADRA2B WNK1