Maple syrup urine disease, BCKDHA-related
- Phene ID
- 1202
- Name
- Maple syrup urine disease, BCKDHA-related
- Phene Name
- N/A
- OMIA ID
- 627
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 1990
| Symbol | Gene ID | Chromosome | Description |
|---|---|---|---|
| BCKDHA | 282149 | 18 | branched chain keto acid dehydrogenase E1, alpha polypeptide |
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 200 | Maple syrup urine disease | 282149 | 1 | 18 | g.50560242C>T | c.1380C>T | p.(P372L) |
| 298 | Maple syrup urine disease | 282149 | 1 | 18 | g.50551011C>T | c.148C>T | p.(Q50*) |
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Polled Hereford (Cattle) | 95 | 9913 | http://purl.obolibrary.org/obo/VBO_0000341 |
| Shorthorn (Cattle) | 76 | 9913 | http://purl.obolibrary.org/obo/VBO_0000375 |
Maple Syrup Urine Disease (MSUD) is an autosomal recessive defect reported in Poll Hereford (PH) and Poll Shorthorn (PS) calves (Harper et al., 1986; Healy et al., 1992). The clinical, biochemical and pathological characters of the disease are identical in the two breeds of cattle, and are characterised by the rapid onset of progressive neurological disease, resulting in death within a few days of birth. The disease is caused by a deficiency of activity of the mitochondrial enzyme branched-chain alpha-keto acid dehydrogenase (BCKADH). This deficiency leads to elevated concentrations of branched chain alpha-keto acids and their precursors, the branched chain amino acids, valine, leucine and isoleucinein in blood and tissues. BCKADH consists of four subunits E1alpha, E1beta, E2 and E3 that are encoded by separate genes, and MSUD may result from deficiency of any of the subunits (Mohammad Shariflou 3/11/2006).
By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Zhang et al. (1990) reported a nonsense mutation (248C>T) in the leader region of the gene for the E1 alpha subunit (BCKDHA) as the cause of the disorder in Poll Herefords. A 1380C>T transition in the same gene was reported by Dennis and Healy (1999) to be responsible for the disease in Poll Shorthorns (Mohammad Shariflou 3/11/2006; FN 14/9/2011).
A PCR test to genotype this disease in Poll Shorthorns and Poll Herefords was developed by Dennis and Healy (1999).