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Enamel defects and salivary methylmalonate in methylmalonic acidemia
Author(s) -
Bassim CW,
Wright JT,
Guadagnini JP,
Muralidharan R,
Sloan J,
Domingo DL,
Venditti CP,
Hart TC
Publication year - 2009
Publication title -
oral diseases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.953
H-Index - 87
eISSN - 1601-0825
pISSN - 1354-523X
DOI - 10.1111/j.1601-0825.2008.01509.x
Subject(s) - enamel paint , methylmalonic acidemia , enamel hypoplasia , complementation , medicine , chemistry , dentistry , endocrinology , biochemistry , phenotype , gene
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 < 0.0001). The mut MMA subgroup had a significantly higher prevalence per individual of severe enamel defects than controls ( P = 0.021), and those with enamel defects exhibited higher serum methylmalonate levels than those without ( P = 0.017). Salivary methylmalonate levels were extremely elevated and were significantly higher than controls ( P = 0.002). Primary teeth were free of enamel defects except for two cblC patients who exhibited severe enamel hypoplasia. One primary tooth from a cblC patient manifested markedly altered crystal microstructure. Conclusion: Enamel anomalies represent a phenotypic manifestation of MMA and cbl metabolic disorders. These findings suggest an association between enamel developmental pathology and disordered metabolism.