Belgian Genetic Tests database
Methylmalonic acidemia with homocystinuria, type cblC
| Name: |
Methylmalonic acidemia with homocystinuria, type cblC
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| Description: |
cblC type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.
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| ORPHAcode: |
79282
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| Synonyms: |
CblC defect
Cobalamin C defect
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC
Methylmalonic aciduria with homocystinuria, type cblC
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| Created: |
13 May 2019 - 01:02
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| Changed: |
22 Jun 2023 - 16:14
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