Van Calcar SC, Harding CO, Davidson SR, Barness LA, Wolff JA (1992) Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia. This case study describes the developmental history and behavioral and neuropsychological sequelae of maple syrup urine disease (MSUD) in an 18-year-old male. Tornqvist K, Tornqvist H (1996) Corneal deepithelialization caused by acute deficiency of isoleucine during treatment of a patient with maple syrup urine disease. J Inherit Metab Dis 7(Supplement 1): 10–12. Rousson R, Guibaud P (1984) Long term outcome of organic acidurias: survey of 105 French cases (1967–1983). Nord A, van Doorninck WJ, Greene C (1991) Developmental profile of patients with maple syrup urine disease. Hilliges C, Awiszus D, Wendel U (1993) Intellectual performance of children with maple syrup urine disease. Maple Syrup Urine Disease Case Study - User ID: 109262.

The Metabolic and Molecular Bases of Inherited Disease, 8th edn, New York: McGraw-Hill, 1971–2005. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds Childs B, Kinzler KW, Vogelstein B, assoc eds. These episodes are often triggered by physiological stress. Patients with MSUD are at risk of life-threatening metabolic decompensations with ketoacidosis and encephalopathy. Metab Pediatr Syst Ophthalmol 14: 12–15.Ĭhuang DT, Shih VE (2000) Maple syrup urine disease (branched chain ketoaciduria). Maple syrup urine disease (MSUD) is an autosomal recessive disorder of branched-chain amino acid metabolism. we report a case of MSUD presenting in a 15 day neonate with classical MRI and Biochemical findings. Burke JP, O’Keefe M, Bowell R, Naughten ER (1991) Ophthalmic findings in maple syrup urine disease. The disease classically presents in early neonatal period.

Maple syrup urine disease case study