Vitamin B12-responsive methylmalonic acidemia
ORPHA:28· ICD-10 E71.1
Definition
An inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2).
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood