Maple syrup urine disease
Definition:
References:
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[1]. Alfonso Oyarzabal, et al. A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease. Hum Mutat. 2013 Feb;34(2):355-62. [Content Brief]
[2]. D T Chuang, et al. Maple syrup urine disease: it has come a long way. J Pediatr. 1998 Mar;132(3 Pt 2):S17-23. [Content Brief]
[3]. David T Chuang, et al. Lessons from genetic disorders of branched-chain amino acid metabolism. J Nutr. 2006 Jan;136(1 Suppl):243S-9S. [Content Brief]
[4]. P Schadewaldt, et al. Metabolism of branched-chain amino acids in maple syrup urine disease. Eur J Pediatr. 1997 Aug;156 Suppl 1:S62-6. [Content Brief]
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