methylmalonic aciduria and homocystinuria type cblF (Q18553422)
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methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl)
- Cobalamin F deficiency
- Methylmalonic Aciduria Due to Vitamin B12-Release Defect
- Cobalamin F defect
- Cobalamin, Defect 1N Lysosomal Release of
- Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF
- Methylmalonic aciduria with homocystinuria, type cblF
- Vitamin B12 Lysosomal Release Defect
- Cobalamin F Disease
- Methylmalonic Acidemia and Homocystinuria, Cblf Type
- Vitamin B12 Storage Disease
- CblF defect
- METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE
- Lysosomal membrane cobalamin transporter deficiency
- Methylmalonic acidemia with homocystinuria type cblF
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | methylmalonic aciduria and homocystinuria type cblF |
methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) |
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Statements
5 references
1 reference
C183525
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Identifiers
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