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Article

Maple syrup urine disease (MSUD): screening for known mutations in Italian patients.

Journal of inherited metabolic disease - 1 Jan 1994

Parrella T, Surrey S, Iolascon A, Sartore M, Heidenreich R, Diamond G, Ponzone A, Guardamagna O, Burlina A B, Cerone R

Abstract excerpt

Maple syrup urine disease (MSUD) is an autosomal recessive disease due to deficiency of the branched-chain alpha-ketoacid dehydrogenase (BCKDH) caused by a large number of mutations. In the present study, DNA from Italian patients and their relatives was examined for three point mutations (Y393N in the E1 alpha gene, T841G and G1031A in the E2 gene) and two deletions (-G at the intron/exon border of exon 8 in the...

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Identifiers

PMID: 7707687
DOI: 10.1007/BF00712006

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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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