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

SOURCES: MESH ORPHANET OMIM


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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