Maple Syrup Urine Disease(Branched-chain 2-ketoacid dehydrogenase deficiency)
An Autosomal recessive mode(s) within the Metabolic disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Metabolic disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | BCKDHA/593 | branched chain keto acid dehydrogenase E1 subunit alpha | 19q13.2 | Chr19, NC_000019.10 (41397818..41425002) |
27185 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | BCKDHB/594 | branched chain keto acid dehydrogenase E1 subunit beta | 6q14.1 | Chr6, NC_000006.12 (80106610..80466676) |
360067 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | DBT/1629 | dihydrolipoamide branched chain transacylase E2 | 1p21.2 | Chr1, NC_000001.11 (100186919..100249834, complement) |
62916 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |