Homocystinuria without methylmalonic aciduria (Q89149): Difference between revisions
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Revision as of 15:42, 15 August 2026
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 |
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| default for all languages | ID_726186034 |
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| 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. |
