![]() ![]() Stepien KM, Wilcox G, Green D, Fletcher S, Hendriksz CJ. Diagnosis and treatment of maple syrup disease: A study of 36 patients. Morton DH, Strauss KA, Robinson DL, Puffenberger EG, Kelley RI. Age dependence of diffusion-weighted magnetic resonance imaging findings in maple syrup urine disease encephalopathy. Sakai M, Inoue Y, Oba H, Ishiguro A, Sekiguchi K, Tsukune Y, et al. Maple syrup urine disease: findings on CT and MR scans of the brain in 10 infants. Accessed on 20 April 2020.īrismar J, Aqeel A, Brismar G, Coates R, Gascon G, Ozand P. The metabolic and molecular bases of inherited disease. Maple syrup urine disease (branched chain ketoaciduria) In: Scriver CR, Beaudet AL, editors. Is demyelination a feature of maple syrup urine disease?. Analysis of clinical manifestations and results of mass spectrometry in diabetic patients. Intermittent Maple Syrup Urine Disease: Two Case Reports. Screening for inborn errors of metabolism using automated electrospray tandem mass spectrometry: Study in high-risk Indian population. Nagaraja D, Mamatha SN, De T, Christopher R. Maple syrup urine disease: mechanisms and management. This report highlights the need for early identification of these infants to optimize neurological outcomes.īlackburn PR, Gass JM, Vairo FPE, Farnham KM, Atwal HK, Macklin S, et al. Molecular studies confirmed the diagnosis. After peritoneal dialysis, baby improved but continued to have residual neurological deficit, in spite of MSUD-specialized diet. Dried blood spots for tandem mass spectrometry and urine for gas chromatography mass spectrometry confirmed elevation and excretion of branched chain amino acids respectively. ![]() Magnetic resonance imaging showed diffusion restriction in myelinated areas like, a pattern suggestive of maple syrup urine disease. ![]() We report a 17 day old boy, who developed progressive encephalopathy, after an apparent period of normalcy. Inborn error of metabolism, Maple syrup urine disease, Neonatal metabolic encephalopathy Abstract Department of Neonatology, Chettinad Hospital and Research Institute, Kelambakkam, Tamil Nadu, IndiaġDepartment of Paediatrics, Chettinad Hospital and Research Institute, Kelambakkam, Tamil Nadu, India ![]()
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