Cobalamin F mutation
Incidence
Very rare. Only one case reported. No cases in Saudi Arabia. It is a defect of the cellular metabolism of cobalamin
Clinical Characteristics
Severe neurologic Sx. The reported case had seizures, hyporonia, developm. delay severe.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
Cobalamin F mutation: EB-F, EB-W, EB-liver, OB-F, GB-F. Definite classification of cobalamine mutations need complementation studies of cultured skin fibroblasts.