Department of Pediatric Dentistry, Faculty of Dentistry, Hacettepe University, 06230, Ankara, Turkey.
Section of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
BMC Oral Health. 2021 Jan 6;21(1):8. doi: 10.1186/s12903-020-01376-0.
Maple syrup urine disease (MSUD) is an inherited disorder clinically characterized by ketoacidosis, seizures, coma, psychomotor delay, and intellectual disability. The treatment requires a life-long protein-restricted diet, rich in carbohydrates and fats, supplemented with a medical amino acid formula. Diet, oral health and general health influence each other in a vicious cycle. The aim of this study was to investigate the oral health status of children and young adults with MSUD in Turkey.
A 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. Patients with any other concomitant genetic diseases and acute infection were excluded. 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. Panoramic radiographs were obtained in 12 cooperative patients.
Mean age was 9.88 ± 5.68 s.d years. More than half of the parents had only primary school level education, and low income. Fourteen patients consumed medical formula during or right before sleep. Fourteen patients reported caries-associated pain. Gingival inflammation was present in all 15 patients who cooperated for evaluation. Seven out of twelve patients had at least one dental anomaly or alterations in mandibular morphology. Five patients had previously been treated for caries under general anesthesia. To our knowledge, this is the first study to document oral clinical and radiologic findings in patients with MSUD.
Impaired oral health was observed in this rare disease population. 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.
枫糖尿症（MSUD）是一种遗传性疾病，临床上表现为酮酸中毒、癫痫发作、昏迷、精神运动迟缓以及智力障碍。其治疗需要终生限制蛋白质摄入，增加碳水化合物和脂肪摄入，并辅以特殊的医学氨基酸配方。饮食、口腔健康和整体健康相互影响，形成恶性循环。本研究旨在调查土耳其 MSUD 患儿和青少年的口腔健康状况。
对在土耳其安卡拉哈塞特佩大学儿童医院接受儿科代谢疾病门诊常规随访的 MSUD 患者进行描述性研究，随访时间为 12 个月。排除合并其他遗传性疾病和急性感染的患者。共纳入 25 名患者，对其进行口腔检查，包括 DMFT/S（恒牙和乳牙的龋齿、缺失和充填牙数/面数）、菌斑和牙龈指数。12 名合作患者拍摄了全景片。
平均年龄为 9.88±5.68 岁。超过一半的父母仅接受过小学教育，收入较低。14 名患者在睡前或睡前服用医学配方。14 名患者报告有龋齿相关疼痛。15 名接受评估的患者中，所有患者均存在牙龈炎症。12 名患者中，7 名患者至少有一颗牙齿异常或下颌形态改变。5 名患者曾因龋齿接受过全麻治疗。据我们所知，这是首例记录 MSUD 患者口腔临床和影像学发现的研究。
在这一罕见疾病人群中观察到口腔健康受损。应通过定期转介口腔医生、采取预防措施和进行口腔治疗，将口腔保健纳入 MSUD 的多学科管理中，以促进口腔健康。
