Methylmalonic acidemia with homocystinuria, type cblC
ORPHA:79282· ICD-10 D58.8
Definition
cblC type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- All ages