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Article

Maple Syrup Urine Disease Complicated with Kyphoscoliosis and Myelopathy.

Pediatrics and neonatology - 1 Oct 2016

Hou Jia-Woei

Abstract excerpt

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...

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PMID: 24486081
DOI: 10.1016/j.pedneo.2013.10.013

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DBT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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