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Article

Molecular basis of maple syrup urine disease and stable correction by retroviral gene transfer.

The Journal of nutrition - 1 Jun 1995

Chuang D T, Davie J R, Wynn R M, Chuang J L, Koyata H, Cox R P

Abstract excerpt

Maple syrup urine disease (MSUD) or branched-chain ketoaciduria is caused by a deficiency of the branched-chain alpha-keto acid dehydrogenase (BCKAD) complex. This results in the accumulation of the branched-chain amino acids (BCAA) and branched-chain alpha-keto acids (BCKA), which often produce severe neurological damage and mental retardation. The present studies focus on mutations in the E1 alpha gene of the...

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Share to 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 7782943
DOI: 10.1093/jn/125.suppl_6.1766S

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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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Molecular basis of maple syrup urine disease and stable correction by retroviral gene transfer.PMID 7782943Read ↗

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Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients.Semantic proximity Read ↗

Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex.Semantic proximity Read ↗

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Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease.Semantic proximity Read ↗

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