| Symbol
| MTRRD
|
| Location
| 5p15.31
|
| Name
|
5-methyltetrahydrofolate-homocysteine methyltransferase reductase deficiency |
| Other name(s)
|
homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type |
| Corresponding gene
|
MTRR
|
| Main clinical features
|
megaloblastic anemia, developmental delay, hyperhomocysteinemia and hypomathioninemia, cblE complementation group of disorders in folate/cobalamin metabolism |
| Genetic determination
| autosomal recessive |
| Function/system disorder
| metabolism/aminoacids |
|
| hematology |
| Type
| disease
|