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Article

Atypical phenotype in a boy with a maple syrup urine disease.

Journal of inherited metabolic disease - 1 Feb 2006

Ben-Omran T I, Blaser S, Phillips H, Callahan J, Feigenbaum A

Abstract excerpt

Maple syrup urine disease (MSUD) is a metabolic disorder due to a block in the decarboxylation step in the catabolic pathways of the branched-chain amino acids (BCAAs). We describe an atypical presentation in an infant male. The patient presented with psychomotor retardation, profound hypotonia and elevated plasma levels of BCAAs, but no elevation of alloisoleucine. Cranial magnetic resonance imaging showed...

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Identifiers

PMID: 16601891
DOI: 10.1007/s10545-006-0224-0

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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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