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.
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
Search interest in BCKDHA
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 United States.
BCKDHA Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the BCKDHA gene.
More info about this panel United States.
BCKDHA Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the BCKDHA gene.
More info about this panel United States.
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 United States.
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.
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 United States.
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 United States.
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 United States.
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 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.
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 United States.
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 Netherlands.
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 Spain.
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 Spain.
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 Portugal.
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 Portugal.
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 India.
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 United States.
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 United States.
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 United States.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Netherlands.
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.
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 Germany.
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 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.
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 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.
Single gene testing BCKDHA Panel
Germany.
By CeGaT GmbH
This panel specifically test the BCKDHA gene.
More info about this panel Germany.
Maple Syrup Urine Disease Ia Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the BCKDHA gene.
More info about this panel Austria.
BCKDHA Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the BCKDHA gene.
More info about this panel Austria.
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 Spain.
Maple Syrup Urine Disease Ia Panel
Slovakia.
By MedGene
This panel specifically test the BCKDHA gene.
More info about this panel Slovakia.
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 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 United States.
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 United States.
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 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.
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 Spain.
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 Spain.
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 United States.
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 United States.
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 United States.
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 United States.
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 Brazil.
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 United States.
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 United States.
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 United States.
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 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.
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 United States.
BCKDHA Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the BCKDHA gene.
More info about this panel United States.
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 Finland.
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 Finland.
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.
Maple syrup urine disease Panel
Spain.
By Bioarray
This panel specifically test the BCKDHA gene.
More info about this panel Spain.
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 United States.
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 United States.
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 United States.
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 Spain.
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 Spain.
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 Spain.
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 United States.
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 Canada.
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 Canada.
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 Canada.
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 Canada.
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 Canada.
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 Canada.
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