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Article

Thiamin-responsive maple syrup urine disease in a patient antigenically missing dihydrolipoamide acyltransferase.

Biochemical medicine and metabolic biology - 1 Jun 1993

Ellerine N P, Herring W J, Elsas L J, McKean M C, Klein P D, Danner D J

Abstract excerpt

Maple syrup urine disease results from inherited defects in human nuclear genes for branched chain alpha-ketoacid dehydrogenase, a mitochondrial multienzyme complex. Thiamin pyrophosphate is necessary for complex activity and a thiamin-responsive form of maple syrup urine disease is known. Here we demonstrate the use of [1-13C]leucine oxidation to [13C]O2 quantified in breath samples as a means of assessing whole...

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Identifiers

PMID: 8347380
DOI: 10.1006/bmmb.1993.1037

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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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Thiamin-responsive maple syrup urine disease in a patient antigenically missing dihydrolipoamide acyltransferase.PMID 8347380Read ↗

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Human mutations affecting branched chain alpha-ketoacid dehydrogenase.Semantic proximity Read ↗

Two new mutations in the human E1 beta subunit of branched chain alpha-ketoacid dehydrogenase associated with maple syrup urine disease.Semantic proximity Read ↗

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