DLAT gene related symptoms and diseases

All the information presented here about the DLAT 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 DLAT gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Poor speech Very Common - Between 80% and 100% cases
Paroxysmal dystonia Very Common - Between 80% and 100% cases
Decreased activity of the pyruvate dehydrogenase complex Very Common - Between 80% and 100% cases
Generalized dystonia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with DLAT gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Delayed gross motor development
  • Hyperammonemia
  • Drooling
  • Oculomotor apraxia
  • Choreoathetosis
  • Apraxia
  • Lactic acidosis
  • Neonatal hypotonia

And 12 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to DLAT gene

Here you will find a list of rare diseases related to the DLAT. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PYRUVATE DEHYDROGENASE E2 DEFICIENCY


Alternate names

PYRUVATE DEHYDROGENASE E2 DEFICIENCY Is also known as dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency, lactic acidemia due to defect of e2 lipoyl transacetylase of the pyruvate dehydrogenase complex, pyruvate dehydrogenase complex component e2 deficiency, dihydrolipoyll

Description

Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.

Most common symptoms of PYRUVATE DEHYDROGENASE E2 DEFICIENCY

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


More info about PYRUVATE DEHYDROGENASE E2 DEFICIENCY

SOURCES: MESH OMIM ORPHANET


Potential gene panels for DLAT 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

DLAT Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the DLAT gene.

More info about this panel

DLAT Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the DLAT gene.

More info about this panel

DLAT Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the DLAT gene.

More info about this panel

DLAT Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the DLAT gene.

More info about this panel

Comprehensive Mitochondrial Metabolic Panel Panel

United States.

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 panel

Dystonia Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dystonia that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH

More info about this panel

Movement Disorders Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Movement Disorders Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SNCA SPR SQSTM1 SUCLA2 SUOX

More info about this panel

Respiratory Chain Deficiency Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Respiratory Chain Deficiency that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SURF1 UQCRB LRPPRC

More info about this panel

Dihydrolipoamide Acetyltransferase (E2) Deficiency Sequencing Panel

United States.

By Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation

This panel specifically test the DLAT gene.

More info about this panel

Pyruvate Dehydrogenase E2 Deficiency Panel

United States.

By Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation

This panel specifically test the DLAT gene.

More info about this panel

Dystonia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8

More info about this panel

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

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

Pyruvate dehydrogenase E2 deficiency (sequence analysis of DLAT gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the DLAT gene.

More info about this panel

DLAT Sequence Analysis Panel

Netherlands.

By Translational Metabolic Laboratory Radboud University Medical Centre

This panel specifically test the DLAT gene.

More info about this panel

Pyruvate Dehydrogenase E2 Deficiency via DLAT Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the DLAT gene.

More info about this panel

Pyruvate Dehydrogenase Complex Deficiency Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Pyruvate Dehydrogenase Complex Deficiency Sequencing Panel with CNV Detection that also includes the following genes: PDHX DLAT DLD PDHA1 PDHB PDP1

More info about this panel

Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: BCS1L SCO2 SUCLA2 SUCLG1 SURF1 TSFM FBXL4 GFM1 GTPBP3 LRPPRC

More info about this panel

Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: BCS1L MRPL12 MRPL3 SCO1 SCO2 SDHB SDHD SLC25A1 SLC25A3 SLC25A4

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Mitochondrial Diseases Panel

Germany.

By MGZ Medical Genetics Center Mitochondrial Diseases that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC22A5 SLC25A12

More info about this panel

Pyruvate Dehydrogenase Deficiency Panel

Germany.

By MGZ Medical Genetics Center Pyruvate Dehydrogenase Deficiency that also includes the following genes: PDHX DLAT DLD PC PDHA1 PDHB

More info about this panel

Mitochondrial Encephalopathy Panel

Germany.

By MGZ Medical Genetics Center Mitochondrial Encephalopathy that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC25A12 SLC25A3

More info about this panel

Pyruvate Dehyrogenase Deficiency Panel

India.

By GeneTech ATS GeneTech Private Limited Pyruvate Dehyrogenase Deficiency that also includes the following genes: DLAT PDHB

More info about this panel

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

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

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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

Pyruvate dehydrogenase E2 deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the DLAT gene.

More info about this panel

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

Ataxia and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1

More info about this panel

Mitochondrial Diseases (mtDNA and 133 nuclear genes) Panel

Estonia.

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 panel

Brain malformations Panel

Estonia.

By Asper Biogene Asper Biogene LLC Brain malformations that also includes the following genes: STIL SLC12A6 SNAP29 TCF4 CEP41 TUBB2A TUBG1 VLDLR VRK1 ACTB

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Invitae Pyruvate Dehydrogenase Deficiency Panel Panel

United States.

By Invitae Invitae Pyruvate Dehydrogenase Deficiency Panel that also includes the following genes: LIAS PDHX MPC1 DLAT DLD PDHA1 PDHB PDP1

More info about this panel

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

Pyruvate dehydrogenase deficiency Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Pyruvate dehydrogenase deficiency that also includes the following genes: PDHX DLAT PDHA1 PDHB PDP1

More info about this panel

Dystonia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dystonia: Sequencing Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH

More info about this panel

Lactic Acidosis-Pyruvate NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Lactic Acidosis-Pyruvate NGS Panel that also includes the following genes: BCS1L SCO2 SLC25A3 SLC25A4 SUCLA2 SUCLG1 SURF1 TAZ TK2 TSFM

More info about this panel

TCA Cycle NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics TCA Cycle NGS Panel that also includes the following genes: SUCLA2 SUCLG1 ACO2 PDHX DLAT FH IDH1 IDH2 IDH3B MDH1

More info about this panel

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

DLAT Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DLAT gene.

More info about this panel

PYRUVATE DEHYDROGENASE DEFICIENCY Panel

Spain.

By Laboratorio de Genetica Clinica SL PYRUVATE DEHYDROGENASE DEFICIENCY that also includes the following genes: PDHX DLAT DLD PDHA1 PDHB

More info about this panel

Pyruvate Dehydrogenase Deficiency , Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Pyruvate Dehydrogenase Deficiency , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: PDHX DLAT PDHA1 PDHB PDP1

More info about this panel

Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Panel

Spain.

By Reference Laboratory Genetics Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1

More info about this panel


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