Effect of feeding, exercise, and genotype on plasma 3-hydroxyacylcarnitines in children with LCHAD deficiency

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Chronic complications observed in patients with long-chain 3-hydroxyacyl coenzyme A dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency may be mediated by the accumulation of 3-hydroxy fatty acid compounds. To understand variation in metabolite accumulation, 3-hydroxyacylcarnitine concentrations were measured by tandem mass spectrometry before and after a mixed meal and moderate-intensity exercise. Subjects who were homozygous or heterozygous for the common mutation (c.1528G > C) in the TFP alpha subunit (LCHAD deficiency) had significantly higher 3-hydroxyacylcarnitines than subjects with TFP deficiency. Feeding a mixed meal significantly suppressed and exercise significantly increased plasma 3-hydroxyacylcarnitines concentrations.

Original languageEnglish (US)
Pages (from-to)359-365
Number of pages7
JournalTopics in Clinical Nutrition
Volume24
Issue number4
DOIs
StatePublished - Oct 2009

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Genotype
Exercise
Meals
Hydroxy Acids
Protein Subunits
Coenzyme A
Tandem Mass Spectrometry
Oxidoreductases
Fatty Acids
Mutation
Trifunctional Protein Deficiency With Myopathy And Neuropathy

Keywords

  • Fatty acid oxidation disorders
  • Hydroxyacylcarnitines

ASJC Scopus subject areas

  • Nutrition and Dietetics

Cite this

Effect of feeding, exercise, and genotype on plasma 3-hydroxyacylcarnitines in children with LCHAD deficiency. / Gillingham, Melanie; Matern, Dietrich; Harding, Cary.

In: Topics in Clinical Nutrition, Vol. 24, No. 4, 10.2009, p. 359-365.

Research output: Contribution to journalArticle

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