Accumulation of leucine and α-ketoisocaproic acid causes metabolic encephalopathy, life-threatening brain edema, and progressive neurodegeneration. Maple syrup urine disease (MSUD, OMIM #248600) is an autosomal recessive disorder resulting from the deficiency of branched-chain α-ketoacid dehydrogenase, which is involved in the degradation of branched-chain amino acids (BCAAs leucine, isoleucine, and valine) and their branched chain α-ketoacid (BCKA) derivatives. Regular dental referral by physicians, preventive measures and dental treatments should be included in multidisciplinary management of maple syrup urine disease to promote oral health. Impaired oral health was observed in this rare disease population. To our knowledge, this is the first study to document oral clinical and radiologic findings in patients with MSUD. Five patients had previously been treated for caries under general anesthesia. Seven out of twelve patients had at least one dental anomaly or alterations in mandibular morphology. Gingival inflammation was present in all 15 patients who cooperated for evaluation. Fourteen patients reported caries-associated pain. Fourteen patients consumed medical formula during or right before sleep. More than half of the parents had only primary school level education, and low income. Panoramic radiographs were obtained in 12 cooperative patients. A total of twenty-five patients were enrolled and underwent oral examination including DMFT/S, dmft/s (decayed/missing/filled teeth/surfaces for deciduous and primary teeth, respectively), plaque and gingival indices. Patients with any other concomitant genetic diseases and acute infection were excluded. MethodsĪ descriptive study was conducted on patients with MSUD who applied for routine follow-up to the pediatric metabolic diseases clinic at Hacettepe University, Children's Hospital in Ankara, Turkey in a 12-month period. The aim of this study was to investigate the oral health status of children and young adults with MSUD in Turkey. Diet, oral health and general health influence each other in a vicious cycle. The treatment requires a life-long protein-restricted diet, rich in carbohydrates and fats, supplemented with a medical amino acid formula. Maple syrup urine disease (MSUD) is an inherited disorder clinically characterized by ketoacidosis, seizures, coma, psychomotor delay, and intellectual disability.
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