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
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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![](/img/flags/United-states.png)
SCOT Deficiency Panel
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By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
This panel specifically test the OXCT1 gene.
More info about this panel![](/img/flags/United-states.png)
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel
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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![](/img/flags/United-states.png)
Ketolysis Disorders Panel
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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![](/img/flags/United-kingdom.png)
OXCT1. Complete sequencing Panel
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By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the OXCT1 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Succinyl-CoA:3-Oxoacid CoA Transferase deficiency (sequence analysis of OXCT1 gene) Panel
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By CGC Genetics
This panel specifically test the OXCT1 gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency via OXCT1 Gene Sequencing with CNV Detection Panel
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By PreventionGenetics PreventionGenetics
This panel specifically test the OXCT1 gene.
More info about this panel![](/img/flags/United-states.png)
Metabolic Hypoglycemia Sequencing Panel with CNV Detection Panel
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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![](/img/flags/United-states.png)
Comprehensive mitochondrial disorders panel Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
CentoICU platinum plus Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
New Born testing (CentoICU) Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Succinyl CoA:3-oxoacid CoA transferase deficiency Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Centogene AG - the Rare Disease Company
This panel specifically test the OXCT1 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Nuclear encoded Mitochondriopathies Panel Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Invitae Organic Acidemias Panel Panel
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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![](/img/flags/United-states.png)
Invitae Ketolysis Disorders Panel Panel
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By Invitae Invitae Ketolysis Disorders Panel that also includes the following genes: OXCT1 ACAT1
More info about this panel![](/img/flags/United-states.png)
Invitae Treatable Neurometabolic Disorders Panel Panel
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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![](/img/flags/United-states.png)
Succinyl CoA:3-oxoacid CoA transferase deficiency: OXCT1 gene sequence analysis Panel
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By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the OXCT1 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Succinyl-CoA: 3-Oxoacid CoA Transferase Deficiency: OXCT1 Full Gene Sequencing Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the OXCT1 gene.
More info about this panel![](/img/flags/United-states.png)
Nuclear-Mito NGS Panel Panel
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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![](/img/flags/United-states.png)
OXCT1 Panel
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By Fulgent Genetics Fulgent Genetics
This panel specifically test the OXCT1 gene.
More info about this panel![](/img/flags/United-states.png)
Comprehensive Metabolism Panel Panel
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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![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel Panel
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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![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Succinyl-CoA acetoacetate transferase deficiency Panel
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By Bioarray
This panel specifically test the OXCT1 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
SUCCINYL-COA:3-KETOACID COA TRANSFERASE DEFICIENCY Panel
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By Laboratorio de Genetica Clinica SL
This panel specifically test the OXCT1 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Succinyl coA 3-Ketoacid Transferase Deficiency, Sequencing OXCT1 Gene Panel
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By Reference Laboratory Genetics
This panel specifically test the OXCT1 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
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