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Pediatric Oncall, 2018
Maple syrup urine disease (MSUD) is a rare disorder of amino acid metabolism, transmitted in auto... more Maple syrup urine disease (MSUD) is a rare disorder of amino acid metabolism, transmitted in autosomal recessive manner. It usually presents as neonatal encephalopathy. A 40 day old infant presented to us with complaints of excessive cry and refusal to feed. After ruling out common causes of encephalopathy, MRI with DWI was done which showed classical changes of MSUD. Tandem mass spectrometry showed markedly increased levels of valine (364.5 mmol/L) and leucine (1475.8mmol/L) in blood. Urinary metabolic profile revealed increased levels of their keto-acids, suggestive of MSUD. Infant was started on modified formula feed containing reduced amounts of branched chain amino acids and thiamine supplements. Infant was followed up after 3 weeks, 8 weeks and 12 weeks. Remarkable clinical improvement was present. Repeat MRI after 8 weeks of treatment showed marked improvement.
Pediatric Oncall, 2018
Maple syrup urine disease (MSUD) is a rare disorder of amino acid metabolism, transmitted in auto... more Maple syrup urine disease (MSUD) is a rare disorder of amino acid metabolism, transmitted in autosomal recessive manner. It usually presents as neonatal encephalopathy. A 40 day old infant presented to us with complaints of excessive cry and refusal to feed. After ruling out common causes of encephalopathy, MRI with DWI was done which showed classical changes of MSUD. Tandem mass spectrometry showed markedly increased levels of valine (364.5 mmol/L) and leucine (1475.8mmol/L) in blood. Urinary metabolic profile revealed increased levels of their keto-acids, suggestive of MSUD. Infant was started on modified formula feed containing reduced amounts of branched chain amino acids and thiamine supplements. Infant was followed up after 3 weeks, 8 weeks and 12 weeks. Remarkable clinical improvement was present. Repeat MRI after 8 weeks of treatment showed marked improvement.