Enamel defects and salivary methylmalonate in methylmalonic acidemia

Introduction and objective: To characterize enamel defects in patients with methylmalonic acidemia (MMA) and cobalamin (cbl) metabolic disorders and to examine salivary methylmalonate levels in MMA. Subjects and methods: Teeth from patients (n = 32) were evaluated for enamel defects and compared with age‐ and gender‐matched controls (n = 55). Complementation class (mut, cblA, cblB and cblC) and serum methylmalonate levels were examined. Primary teeth from two patients were examined by light and scanning electron microscopy and salivary methylmalonate levels from two patients were analyzed. Results: Enamel defects were significantly more prevalent per tooth in the affected group than the control group, across complementation types (P