Clinical Course of Methylmalonic Aciduria in Siblings: Two Clinical Cases
Olga V. Bugun,
Galina P. Bogonosova,
Tatyana A. Astakhova
et al.
Abstract:Background. Methylmalonic aciduria (MMA) is a rare disease from the group of hereditary metabolic diseases. The MMA clinical picture is polymorphic and meanwhile similar to other metabolic disorders. Determination of specific metabolites in biological fluids and molecular genetic testing are crucial to diagnose this disease. Timely diagnosis mainly determines the treatment efficacy and, therefore, the prognosis of MMA development. Clinical case description. Two siblings with MMA caused by methylmalonyl-CoA mut… Show more
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