OXCT1 gene related symptoms and diseases
All the information presented here about the OXCT1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to OXCT1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Coma | Very Common - Between 80% and 100% cases |
| Methylmalonic aciduria | Very Common - Between 80% and 100% cases |
| Ketonuria | Very Common - Between 80% and 100% cases |
| Ketoacidosis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with OXCT1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Ketosis
- Hyperventilation
- Loss of consciousness
- Tachypnea
- Aciduria
- Metabolic acidosis
- Feeding difficulties
- Lactic acidosis
And 9 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to OXCT1 gene
Here you will find a list of rare diseases related to the OXCT1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SUCCINYL-COA:3-KETOACID COA TRANSFERASE DEFICIENCY
Alternate names
SUCCINYL-COA:3-KETOACID COA TRANSFERASE DEFICIENCY Is also known as scot deficiency, oxct1 deficiency, succinyl-coa:acetoacetate transferase deficiency, succinyl-coa acetoacetate transferase deficiency, succinyl-coa:3-ketoacid coa-transferase deficiency, succinyl-coa:3-oxoacid coa transferase deficiency, ketoacidosis due to sco
Description
Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.
Most common symptoms of SUCCINYL-COA:3-KETOACID COA TRANSFERASE DEFICIENCY
- Global developmental delay
- Feeding difficulties
- Vomiting
- Recurrent infections
- Diabetes mellitus
More info about SUCCINYL-COA:3-KETOACID COA TRANSFERASE DEFICIENCY
Search interest in OXCT1
Potential gene panels for OXCT1 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.
SCOT Deficiency Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
This panel specifically test the OXCT1 gene.
More info about this panel United States.
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel
United States.
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 panel United States.
Ketolysis Disorders Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Ketolysis Disorders that also includes the following genes: OXCT1 ACAT1
More info about this panel United Kingdom.
OXCT1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the OXCT1 gene.
More info about this panel Spain.
Succinyl-CoA:3-Oxoacid CoA Transferase deficiency (sequence analysis of OXCT1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the OXCT1 gene.
More info about this panel Portugal.
Succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency via OXCT1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the OXCT1 gene.
More info about this panel United States.
Metabolic Hypoglycemia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Metabolic Hypoglycemia Sequencing Panel with CNV Detection that also includes the following genes: SLC16A1 SLC2A2 ACSF3 AGL FBP1 G6PC SLC37A4 GALT ALDOB GYS2
More info about this panel United States.
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.
Succinyl CoA:3-oxoacid CoA transferase deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the OXCT1 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 Ketolysis Disorders Panel Panel
United States.
By Invitae Invitae Ketolysis Disorders Panel that also includes the following genes: OXCT1 ACAT1
More info about this panel United States.
Invitae Treatable Neurometabolic Disorders Panel Panel
United States.
By Invitae Invitae Treatable Neurometabolic Disorders Panel that also includes the following genes: SGSH SLC25A13 SLC25A15 SLC2A1 SLC6A8 BTD SPR TAT TH NPC2
More info about this panel United States.
Succinyl CoA:3-oxoacid CoA transferase deficiency: OXCT1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the OXCT1 gene.
More info about this panel Spain.
Succinyl-CoA: 3-Oxoacid CoA Transferase Deficiency: OXCT1 Full Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the OXCT1 gene.
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.
OXCT1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the OXCT1 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.
Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel Panel
Finland.
By Blueprint Genetics Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel that also includes the following genes: SLC16A1 SLC2A2 HNF1A UCP2 RBCK1 NHLRC1 PTF1A ACSF3 AGL ENO3
More info about this panel Finland.
Succinyl-CoA acetoacetate transferase deficiency Panel
Spain.
By Bioarray
This panel specifically test the OXCT1 gene.
More info about this panel Spain.
SUCCINYL-COA:3-KETOACID COA TRANSFERASE DEFICIENCY Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the OXCT1 gene.
More info about this panel Spain.
Succinyl coA 3-Ketoacid Transferase Deficiency, Sequencing OXCT1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the OXCT1 gene.
More info about this panel Spain.
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