Oral health status of children and young adults with maple syrup urine disease in Turkey

Abstract

Background 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. Methods 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. Results 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. Conclusions 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.

The oral phenotype and dental management in patients with maple syrup urine disease; case report and scoping review

“…Fukushima et al, 1986 and Gazit et al, 1989 reported the presence of rampant caries in a 5-year-old girl a 14-year-old boy with classical MSUD respectively [ 18 , 20 ]. Similar findings were reported in a retrospective study from Turkey where Ballikaya et al, 2021 examined 25 children and young adolescents with MSUD and identified dental caries in 72% of the cases [ 17 ]. The mean dmft score was 6.2 and dmfs was 22.26, while the mean DMFT score was 2.66 and DMFS was 5.83.…”

“…The presence of enamel hypoplasia can further increase the risk of dental caries. In fact, enamel defects were reported in more than 50% of the cohort examined by Ballikaya et al, 2021, and in the patient reported by Fukushima et al, 1986 and in our patient [ 17 , 20 ].…”

“…Gingivitis was also consistently reported among included studies, and variable degrees of gingival inflammation were reported in all patients from the included studies including our patient. The mean plaque index score among the cohort examined by Ballikaya et al, 2021 was 2.5 [ 17 ]. Gazit et al, 1989 described the occurrence of severe inflammatory gingival enlargement and microscopic evidence of osteomyelitis in a boy with MSUD.…”

“…Skeletal abnormalities reported among patients with MSUD included elongated faces, incompetent lips, crowding, small dental arches, and abnormal mandibular position (i.e. prognathism or retrognathism) [ 17 , 18 , 20 , 23 ]. The exact cause for these skeletal abnormalities is not known, but it seems that the presence of hypotonia and lack of muscle coordination combined with soft artificial diet could be a major contributor to the observed skeletal phenotype [ 24 – 28 ].…”

“…The oral health in patients with MSUD might be compromised due to the long-term use of semisynthetic diet and the associated complications such as intellectual disability, obesity, and use of medications. In fact, studies evaluating the oral health status in patients with MSUD are sparse, but increased prevalence of dental caries, dental anomalies and oral infections have been reported [ 17 , 18 ]. Furthermore, dental management of patients with MSUD might be challenging especially when general anesthesia is needed to facilitate dental treatment.…”