title: Diagnostic tools of early brain disturbances in an asymptomatic neonate with maple syrup urine disease.
abstract: Maple syrup urine disease (MSUD) is a rare inherited metabolic disorder resulting from the defective activity of branched-chain 2-ketoacid dehydrogenase complex. Routine screening of newborn with tandem mass spectroscopy on the third day of life may detect elevated branched-chain amino acids in blood before the appearance of encephalopathic symptoms in MSUD cases. If undiagnosed by such a routine screening test, patients often present with encephalopathy and seizures. Clinical neurologic examination is supplemented by electroencephalography and imaging. Here, we report abnormal amplitude-integrated electroencephalography, electroencephalography, magnetic resonance imaging, and magnetic resonance imaging spectroscopy findings in a neurologically asymptomatic male newborn who was diagnosed with MSUD at the third week of life. These neurologic disturbances disappeared at the fourth month of life with appropriate special diet. Therefore, even in already asymptomatic cases, early neurologic deterioration of brain metabolism and structure can be detected with these early laboratory findings, indicating the importance of early diagnosis and management. Patients may also benefit from these investigations during the follow-up period.
authors: Department of Pediatrics, Division of Neonatology, Ege University Faculty of Medicine, Izmir, Turkey.
authors: Demet
authors: D
authors: Terek
authors: Ozge
authors: O
authors: Koroglu
authors: Mehmet
authors: M
authors: Yalaz
authors: Sarenur
authors: S
authors: Gokben
authors: Cem
authors: C
authors: Calli
authors: Mahmut
authors: M
authors: Coker
authors: Nilgun
authors: N
authors: Kultursay
mesh_terms: D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D001927:Brain Diseases / Q000178:diet therapy / Q000209:etiology*; D058256:Brain Waves / Q000502:physiology; D003241:Consanguinity; D002658:Developmental Disabilities / Q000209:etiology* / Q000473:pathology; D004032:Diet; D050528:Diet, Carbohydrate-Restricted / Q000379:methods; D004569:Electroencephalography; D006801:Humans; D007231:Infant, Newborn; D007294:Inositol / Q000378:metabolism; D019344:Lactic Acid / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008375:Maple Syrup Urine Disease / Q000150:complications* / Q000175:diagnosis* / Q000178:diet therapy
chemical_list: D001224:Aspartic Acid; D019344:Lactic Acid; D007294:Inositol; C000179:N-acetylaspartate