Cobalamin D mutation
Incidence
Extremely rare. Only 2 cases reported. AR inheritance. No cases in Saudi Arabia. It is a defect of the cellular metabolism of cobalamin.. The picture is a combination of methylmalonic acidemia (MMA) and homocystinuria.
Clinical Characteristics
Neurologic Sx. Behavior problems, severe. Moderate MR. in late childhood.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
Cobalamin D mutation: EB-F, EB-W, EB-liver, OB-F, GB-F. Definite classification of cobalamine mutations need complementation studies of cultured skin fibroblasts.