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Maple syrup urine disease (MSUD) is an inborn error of amino acid metabolism secondary to enzyme defect that breaks down branched-chain amino acid (BCAA). Accumulation of these amino acids and their corresponding ketoacids in the body progresses to neurodegenerative disorders and encephalopathy in undiagnosed infants. We report a case of 46 days old baby with classical clinical and biochemical findings consistent with MSUD. Baby was investigated for inborn error of metabolism after he developed lethargy and his oral intake reduced on fifth day of life. A diagnosis of MSUD was established after analysis of plasma and CSF amino acid profile. Baby was treated accordingly and improvement in his condition was seen afterwards
Zara Idrees, Arshad Khushdil, Ujala Zakir, Zeeshan Ahmed. (2018) CLASSIC MAPLE SYRUP URINE DISEASEIN A 46-DAY-OLD BABY:A CASE REPORT, KHYBER MEDICAL UNIVERSITY JOURNAL, Volume 10, Issue 1.
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