Maple Syrup Urine Disease Complicated with Kyphoscoliosis and Myelopathy

Maple syrup urine disease (MSUD) is an autosomal recessive aminoacidopathy secondary to an enzyme defect in the catabolic pathway of the branched-chain amino acids (BCAAs: leucine, isoleucine, and valine). Accumulation of their corresponding keto-acids leads to encephalopathy if not treated in time. A newborn male patient was suspected to have MSUD after tandem mass study when he presented symptoms and signs suggestive neonatal sepsis, anemia, and diarrhea. Food restriction of BCAAs was started; however, acrodermatitis enteropathica-like skin eruptions occurred at age 2 months.

Source: Pediatrics and Neonatology - March 4, 2016 Category: Perinatology & Neonatology Authors: Jia-Woei Hou Tags: Case report Source Type: research