Methylmalonic aciduria - homocystinuria type cbl C (Q101512)
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cblC type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterised by megaloblastic anaemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1633413170 |
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| English | Methylmalonic aciduria - homocystinuria type cbl C |
cblC type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterised by megaloblastic anaemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. |
