BCKDHA gene related symptoms and diseases

All the information presented here about the BCKDHA gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to BCKDHA gene

Symptoms // Phenotype % Cases
Intellectual disability Rare - less than 30% cases
Pancreatitis Rare - less than 30% cases
Nausea Rare - less than 30% cases
Lactic acidosis Rare - less than 30% cases
Hepatic failure Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with BCKDHA gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Coma
  • Postural instability
  • Tetraplegia
  • Otitis media
  • Hepatitis
  • Spastic tetraplegia
  • Hallucinations
  • Cerebral palsy

And 38 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to BCKDHA gene

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


THIAMINE-RESPONSIVE MAPLE SYRUP URINE DISEASE


Alternate names

THIAMINE-RESPONSIVE MAPLE SYRUP URINE DISEASE Is also known as thiamine-responsive bckd deficiency, thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency, thiamine-responsive msud

Description

Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD (see this term) that manifests with a phenotype similar to intermediate MSUD (see this term) but that responds positively to treatment with thiamine.


More info about THIAMINE-RESPONSIVE MAPLE SYRUP URINE DISEASE

SOURCES: ORPHANET

INTERMITTENT MAPLE SYRUP URINE DISEASE


Alternate names

INTERMITTENT MAPLE SYRUP URINE DISEASE Is also known as intermittent branched-chain alpha-ketoacid dehydrogenase deficiency, intermittent bckd deficiency, intermittent msud

Description

Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD (see this term) where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated.


More info about INTERMITTENT MAPLE SYRUP URINE DISEASE

SOURCES: ORPHANET

INTERMEDIATE MAPLE SYRUP URINE DISEASE


Alternate names

INTERMEDIATE MAPLE SYRUP URINE DISEASE Is also known as intermediate branched-chain alpha-ketoacid dehydrogenase deficiency, intermediate bckd deficiency, intermediate msud

Description

Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD (see this term) characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation.


More info about INTERMEDIATE MAPLE SYRUP URINE DISEASE

SOURCES: ORPHANET

CLASSIC MAPLE SYRUP URINE DISEASE


Alternate names

CLASSIC MAPLE SYRUP URINE DISEASE Is also known as keto acid decarboxylase deficiency, classic branched-chain ketoaciduria, classic branched-chain alpha-ketoacid dehydrogenase deficiency, classic msud, bckd deficiency, classic bckd deficiency, branched-chain ketoaciduria, branched-chain alpha-keto acid dehydroge

Description

Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD (see this term) characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.

Most common symptoms of CLASSIC MAPLE SYRUP URINE DISEASE

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


More info about CLASSIC MAPLE SYRUP URINE DISEASE

SOURCES: OMIM ORPHANET


Potential gene panels for BCKDHA gene

BCKDHA Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the BCKDHA gene.

More info about this panel

BCKDHA Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the BCKDHA gene.

More info about this panel

BCKDHA Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the BCKDHA gene.

More info about this panel

BCKDHA Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the BCKDHA gene.

More info about this panel

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

GeneAware Complete Panel Version 2 (Female) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

GeneAware Complete Panel Version 2 (Male) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

Maple Syrup Urine Disease-BCKDHA common mutation Panel

United States.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado

This panel specifically test the BCKDHA gene.

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

MSUD Sequencing Panel Panel

United States.

By GeneDx MSUD Sequencing Panel that also includes the following genes: DBT BCKDHA BCKDHB

More info about this panel

NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) that also includes the following genes: SGSH SLC2A1 SPR NPC2 CBS APTX COQ8A PDSS1 MMAA MMAB

More info about this panel

BCKDHA. Detection of the mutation c.1312T>A by sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the BCKDHA gene.

More info about this panel

BCKDHA. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the BCKDHA gene.

More info about this panel

Maple syrup urine disease type Ia (sequence analysis of BCKDHA gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the BCKDHA gene.

More info about this panel

Maple syrup urine disease (c.117del, p.Arg40Glyfs*23 mutation on BCKDHA gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the BCKDHA gene.

More info about this panel

Maple Syrup Urine Disease Panel

India.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital Maple Syrup Urine Disease that also includes the following genes: DBT BCKDHA BCKDHB

More info about this panel

Maple Syrup Urine Disease Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Maple Syrup Urine Disease Sequencing Panel with CNV Detection that also includes the following genes: DBT BCKDHA BCKDHB

More info about this panel

Organic Aciduria Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Organic Aciduria Sequencing Panel with CNV Detection that also includes the following genes: SLC25A1 CD320 MCEE MMAA MMAB L2HGDH MMACHC MMADHC DBT ACSF3

More info about this panel

Maple Syrup Urine Disease Type IA via BCKDHA Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the BCKDHA gene.

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

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

Ataxia Panel

Germany.

By MGZ Medical Genetics Center Ataxia that also includes the following genes: SACS SLC1A3 SLC25A15 SLC2A1 SLC2A10 CACNA1A CACNA1C CACNB4 APTX SLC52A3

More info about this panel

Episodic Ataxia and Phenocopies Panel

Germany.

By MGZ Medical Genetics Center Episodic Ataxia and Phenocopies that also includes the following genes: SLC1A3 SLC22A5 SLC25A15 SLC2A1 CACNA1A CACNA1C CACNB4 ABHD5 CPT2 DARS2

More info about this panel

Maple syrup urine disease, type Ia (BCKDHA) Panel

Netherlands.

By VU University Medical Center Metabolic Unit, PX 1X 009

This panel specifically test the BCKDHA gene.

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

Maple syrup urine disease panel Panel

Germany.

By Centogene AG - the Rare Disease Company Maple syrup urine disease panel that also includes the following genes: DBT DLD BCKDHA BCKDHB

More info about this panel

AllNeuro panel Panel

Germany.

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 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

More info about this panel

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

Maple syrup urine disease type 1a Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the BCKDHA 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

Single gene testing BCKDHA Panel

Germany.

By CeGaT GmbH

This panel specifically test the BCKDHA gene.

More info about this panel

Maple Syrup Urine Disease Ia Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the BCKDHA gene.

More info about this panel

BCKDHA Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the BCKDHA gene.

More info about this panel

qCarrier Plus Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH

More info about this panel

Maple Syrup Urine Disease Ia Panel

Slovakia.

By MedGene

This panel specifically test the BCKDHA gene.

More info about this panel

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

Invitae Elevated Leucine Panel Panel

United States.

By Invitae Invitae Elevated Leucine Panel that also includes the following genes: PPM1K DBT DLD BCKDHA BCKDHB

More info about this panel

Invitae Metabolic Disorders Newborn Screening Confirmation Panel Panel

United States.

By Invitae Invitae Metabolic Disorders Newborn Screening Confirmation Panel that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SMPD1 BTD SPR SUCLA2 SUCLG1 TAT TAZ

More info about this panel

Invitae Maple Syrup Urine Disease Panel Panel

United States.

By Invitae Invitae Maple Syrup Urine Disease Panel that also includes the following genes: PPM1K DBT BCKDHA BCKDHB

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

MAPLE SYRUP URINE DISEASE Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases MAPLE SYRUP URINE DISEASE that also includes the following genes: DBT DLD BCKDHA BCKDHB

More info about this panel

ORGANIC ACIDEMIAS Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases ORGANIC ACIDEMIAS that also includes the following genes: MMAA MMAB MMACHC DBT GCDH HMGCL IVD MCCC1 MCCC2 MMUT

More info about this panel

Maple Syrup Urine Disease (MSUD): BCKD Complex Full Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Maple Syrup Urine Disease (MSUD): BCKD Complex Full Gene Sequencing that also includes the following genes: DBT BCKDHA BCKDHB

More info about this panel

Maple Syrup Urine Disease (MSUD): BCKD Complex Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Maple Syrup Urine Disease (MSUD): BCKD Complex Gene Deletion/Duplication that also includes the following genes: DBT BCKDHA BCKDHB

More info about this panel

Inherited Metabolic Disorders: Sequencing Panel Panel

United States.

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 panel

Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6

More info about this panel

Maple Syrup Urine Disease (MSUD): Sequencing NGS Multi-Gene Panel (4 genes) Panel

Brazil.

By DLE - Diagnosticos Laboratoriais Especializados Maple Syrup Urine Disease (MSUD): Sequencing NGS Multi-Gene Panel (4 genes) that also includes the following genes: DBT DLD BCKDHA BCKDHB

More info about this panel

Inheritest NGS, Ashkenazi Jewish Ancestry Panel Panel

United States.

By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Ashkenazi Jewish Ancestry Panel that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR SUMF1 DHDDS

More info about this panel

Ashkenazi Jewish Carrier Testing Panel

United States.

By Integrated Genetics Westborough Integrated Genetics Ashkenazi Jewish Carrier Testing that also includes the following genes: BLM SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC FKTN

More info about this panel

Maple Syrup Urine Disease Panel

United States.

By Integrated Genetics Westborough Integrated Genetics Maple Syrup Urine Disease that also includes the following genes: BCKDHA BCKDHB

More info about this panel

Inheritest NGS, Comprehensive Panel

United States.

By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3

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

Maple Syrup Urine Disease NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Maple Syrup Urine Disease NGS Panel that also includes the following genes: DBT BCKDHA BCKDHB

More info about this panel

BCKDHA Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the BCKDHA gene.

More info about this panel

Hyperammonemia and Urea Cycle Disorder Panel Panel

Finland.

By Blueprint Genetics Hyperammonemia and Urea Cycle Disorder Panel that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SLC7A7 SUCLA2 SUCLG1 UMPS SLC25A20 NBAS NAGS

More info about this panel

Organic Acidemia/Aciduria & Cobalamin Deficiency Panel Panel

Finland.

By Blueprint Genetics Organic Acidemia/Aciduria & Cobalamin Deficiency Panel that also includes the following genes: BCS1L SLC25A1 SUCLG1 TCN2 UMPS AMN CBS SUGCT CD320 MCEE

More info about this panel

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

Maple syrup urine disease Panel

Spain.

By Bioarray

This panel specifically test the BCKDHA gene.

More info about this panel

Baby Genes Targeted Panel Panel

United States.

By Baby Genes Inc. Baby Genes Inc. Baby Genes Targeted Panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG

More info about this panel

Maple Syrup Urine Disease NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Maple Syrup Urine Disease NGS and Deletion/Duplication Panel that also includes the following genes: DBT BCKDHA BCKDHB

More info about this panel

BCKDHA Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the BCKDHA gene.

More info about this panel

MAPLE SYRUP URINE DISEASE NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL MAPLE SYRUP URINE DISEASE NGS PANEL that also includes the following genes: PPM1K DBT DLD BCKDHA BCKDHB

More info about this panel

Organic Acidemias , Panel Massive Sequencing (NGS) 15 Genes Panel

Spain.

By Reference Laboratory Genetics Organic Acidemias , Panel Massive Sequencing (NGS) 15 Genes that also includes the following genes: MMAA MMAB MMACHC DBT GCDH HMGCL IVD MCCC1 MCCC2 MMUT

More info about this panel

Maple Syrup Urine Disease , Panel Massive Sequencing (NGS) 4 Genes Panel

Spain.

By Reference Laboratory Genetics Maple Syrup Urine Disease , Panel Massive Sequencing (NGS) 4 Genes that also includes the following genes: DBT DLD BCKDHA BCKDHB

More info about this panel

planTrue Extended Panel

United States.

By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1

More info about this panel

CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 DUOX2

More info about this panel

CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG

More info about this panel

Maple syrup urine disease, type Ia: Full gene sequencing (Rapid testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the BCKDHA gene.

More info about this panel

Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

Maple Syrup Urine Disease: gene sequencing panel (Rapid testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Maple Syrup Urine Disease: gene sequencing panel (Rapid testing) that also includes the following genes: DBT DLD BCKDHA BCKDHB

More info about this panel

Maple Syrup Urine Disease: gene sequencing panel (RAPID testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Maple Syrup Urine Disease: gene sequencing panel (RAPID testing) that also includes the following genes: DBT DLD BCKDHA BCKDHB

More info about this panel


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