Complementation analysis of maple syrup urine disease in heterokaryons derived from cultured human fibroblasts

Linda B. Lyons, R. P. Cox, J. Dancis

Research output: Contribution to journalArticle

30 Citations (Scopus)

Abstract

MAPLE syrup urine disease (MSUD) is an autosomal recessive disorder characterized by keto acidosis, convulsions, mental retardation and a maple syrup odour in the urine. The clinical phenotype varies among different families, with a severe early onset in the classical form of the disease and milder symptoms with delayed onset in variants. The biochemical defect is an inability to degrade the three branched-chain amino-acids (BCAA), leucine, isoleucine, and valine, as a result of a deficiency in decarboxylation of the branched-chain α-keto acids (BCKA). The enzyme defect is expressed in skin fibroblast cultures derived from affected patients, and the level of residual BCKA decarboxylase activity correlates with the severity of clinical symptoms. The heterogeneity in clinical presentation and the level of residual decarboxylase activity appear to be genetically determined1.

Original languageEnglish (US)
Pages (from-to)533-535
Number of pages3
JournalNature
Volume243
Issue number5409
DOIs
StatePublished - 1973

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Maple Syrup Urine Disease
Keto Acids
Carboxy-Lyases
Fibroblasts
Urine
Acer
Branched Chain Amino Acids
Decarboxylation
Isoleucine
Valine
Acidosis
Leucine
Intellectual Disability
Seizures
Phenotype
Skin
Enzymes

ASJC Scopus subject areas

  • General

Cite this

Complementation analysis of maple syrup urine disease in heterokaryons derived from cultured human fibroblasts. / Lyons, Linda B.; Cox, R. P.; Dancis, J.

In: Nature, Vol. 243, No. 5409, 1973, p. 533-535.

Research output: Contribution to journalArticle

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