| Entry |
|
|---|
| Name |
MMUT deficiency in propanoyl-CoA metabolism
|
|---|
| Definition |
Propanoyl-CoA -- (PCCA+PCCB) >> MCEE >> MMUT* |
|---|
| Expanded |
C00100 -- (5095+5096) >> 84693 >> 4594v1 |
|---|
| Class |
nt06024 Valine, leucine and isoleucine degradation
|
|---|
| Type |
Variant
|
|---|
| Disease |
|
|---|
| Gene |
| 5095 | PCCA; propionyl-CoA carboxylase subunit alpha |
| 5096 | PCCB; propionyl-CoA carboxylase subunit beta |
| 84693 | MCEE; methylmalonyl-CoA epimerase |
| 4594 | MMUT; methylmalonyl-CoA mutase |
|
|---|
| Variant |
4594v1 (MMUT*) MMUT deficiency
|
|---|
| Metabolite |
|
|---|
| Reference |
|
|---|
| Authors |
Jansen R, Ledley FD |
|---|
| Title |
Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning. |
|---|
| Journal |
Am J Hum Genet 47:808-14 (1990) |
|---|
| LinkDB |
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