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Article

Early diagnosis of maple syrup urine disease using polymerase chain reaction-based mutation detection.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Jun 2008

Silao Catherine Lynn T, Padilla Carmencita D, Matsuo Masafumi

Abstract excerpt

BACKGROUND: Maple syrup urine disease (MSUD) is an autosomal recessive disorder caused by defective activity of the branched-chain alpha-ketoacid dehydrogenase enzyme complex. Early diagnosis and management of MSUD are imperative for preventing permanent neurological impairments. In the Philippines, a 4.7 kb deletion in the dihydrolipoamide branched-chain transacylase E2 (DBT) gene has been commonly identified in...

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Identifiers

PMID: 18533943
DOI: 10.1111/j.1442-200X.2008.02610.x

Genes

DBT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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