Methylmalonic aciduria - homocystinuria (Q86132)
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Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterised by megaloblastic anaemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are three complementation classes of cobalamin defects (cblC, cblD and cblF) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD and cblF; see these terms).
| Language | Label | Description | Also known as |
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| default for all languages | ID_1836722766 |
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| English | Methylmalonic aciduria - homocystinuria |
Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterised by megaloblastic anaemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are three complementation classes of cobalamin defects (cblC, cblD and cblF) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD and cblF; see these terms). |
