Homocystinuria without methylmalonic aciduria (Q89149)
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Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterised by megaloblastic anaemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinaemia.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_726186034 |
||
| English | Homocystinuria without methylmalonic aciduria |
Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterised by megaloblastic anaemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinaemia. |
Statements
CID11:ID_726186034
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