Details of Disease
General Information of Disease (ID: DISX5RWD)
| Disease Name | Homocystinuria without methylmalonic aciduria | |||||
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| Synonyms | methylcobalamin deficiency; homocystinuria without methylmalonic aciduria; functional methionine synthase deficiency | |||||
| Definition |
Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1).
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