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. doi:10.2147/TACG.Maple syrup urine disease (MSUD) is an inherited disorder clinically characterized by ketoacidosis, seizures, coma, psychomotor delay, and intellectual disability. (2017) The application of clinical genetics. Maple syrup urine disease: mechanisms and management. Blackburn PR, Gass JM, Vairo FPE, Farnham KM, Atwal HK, Macklin S, Klee EW, Atwal PS. Neuroimaging Findings of Organic Acidemias and Aminoacidopathies. Reddy N, Calloni SF, Vernon HJ, Boltshauser E, Huisman TAGM, Soares BP. Imaging in neonatal maple syrup urine disease. Imaging in classic form of maple syrup urine disease: a rare metabolic central nervous system. Diffusion-weighted magnetic resonance imaging in a case of severe classic maple syrup urine disease. Management involves dietary changes, such as life-long dietary intake restriction of foods with branched-chain amino acids (especially leucine), and early treatment of metabolic decompensation, with agents such as intravenous glucose 9. MR spectroscopy: single-voxel proton MR spectroscopy may show the presence of branched-chain amino acids and branched-chain alpha-keto acids resonating at 0.9-1.0 ppm, especially during a metabolic crisis 1,2.DWI: the posterior limbs of the internal capsules and optic radiations and the central corticospinal tracts within the cerebral hemispheres exhibit high diffusion signal.predominantly in the cerebellar white matter, cerebral peduncles, dorsal brainstem, posterior limb of the internal capsule, thalami, globe pallidi, and perirolandic cerebral white matter 8.vasogenic edema: usually due to disruption of the blood-brain barrier during an acute metabolic crisis or decompensation 8.intramyelinic edema: believed to be from myelin splitting due to accumulation of branched-chain key acids and water molecules between layers of myelin 8.
MRI brain may show the characteristic pattern of edema present in MSUD. There is elevated plasma concentrations of branched-chain amino acids (leucine, isoleucine, and valine), allo-isoleucine, and alpha-ketoacids. It is inherited in an autosomal recessive pattern and various different genes have been implicated 1. Maple syrup urine disease is due to mutations in any aspect of the mitochondrial branched-chain alpha-keto acid dehydrogenase complex 8. Intermittent forms of the disease may present later (5 months to 2 years of age) and can be precipitated by concomitant infection or a high protein intake 8. characteristic odor of maple syrup in the urine or cerumen.It usually manifests itself within the first week of life with 8: