Cobalamin C mutation
Incidence
Some 70 cases reported. AR inheritance. Two cases in Saudi Arabia.
Clinical Characteristics
Severe neurologic Sx. Developmental delay, mental retardation, retinal degeneration. Severe FTT, lethargy. Most pts. have megaloblastic macrocytic anemia. It is a combination of methylmalonic acidemia and homocystinuria.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
Cobalamin C mutation: EB-F, EB-W, EB-liver, OB-F, CB-F. Definite classification of cobalamine mutations need complementation studies of cultured skin fibroblasts.