Literature DB >> 20589231

EFFECT OF FEEDING, EXERCISE AND GENOTYPE ON PLASMA 3-HYDROXYACYLCARNITINES IN CHILDREN WITH LCHAD DEFICIENCY.

Melanie B Gillingham1, Dietrich Matern, Cary O Harding.   

Abstract

Chronic complications observed in patients with long-chain 3-hydroxyacylCoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency may be mediated by the accumulation of 3-hydroxy fatty acids or 3-hydroxyacylcarnitines. To understand variation in metabolite accumulation, their 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.

Entities:  

Year:  2009        PMID： 20589231      PMCID： PMC2892921          DOI： 10.1097/TIN.0b013e3181c62182

Source DB:  PubMed          Journal:  Top Clin Nutr        ISSN： 0883-5691            Impact factor:   0.508


  16 in total

1.  Metabolic control during exercise with and without medium-chain triglycerides (MCT) in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency.

Authors:  Melanie B Gillingham; Bradley Scott; Diane Elliott; Cary O Harding
Journal:  Mol Genet Metab       Date:  2006-07-27       Impact factor: 4.797

2.  Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders.

Authors:  J J Shen; D Matern; D S Millington; S Hillman; M D Feezor; M J Bennett; M Qumsiyeh; S G Kahler; Y T Chen; J L Van Hove
Journal:  J Inherit Metab Dis       Date:  2000-02       Impact factor: 4.982

3.  Comparison of peak performance measures in children ages 6 to 8, 9 to 10, and 11 to 13 years.

Authors:  T B Gilliam; S Sady; W G Thorland; A L Weltman
Journal:  Res Q       Date:  1977-12

4.  Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene.

Authors:  L IJlst; J P Ruiter; J M Hoovers; M E Jakobs; R J Wanders
Journal:  J Clin Invest       Date:  1996-08-15       Impact factor: 14.808

5.  Effects of higher dietary protein intake on energy balance and metabolic control in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency.

Authors:  Melanie B Gillingham; Jonathan Q Purnell; Julia Jordan; Diane Stadler; Andrea M Haqq; Cary O Harding
Journal:  Mol Genet Metab       Date:  2006-09-22       Impact factor: 4.797

6.  Exercise tolerance in carnitine palmitoyltransferase II deficiency with IV and oral glucose.

Authors:  Mette C Ørngreen; David B Olsen; John Vissing
Journal:  Neurology       Date:  2002-10-08       Impact factor: 9.910

7.  Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis.

Authors:  D Matern; A W Strauss; S L Hillman; E Mayatepek; D S Millington; F K Trefz
Journal:  Pediatr Res       Date:  1999-07       Impact factor: 3.756

8.  Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood.

Authors:  F Rocchiccioli; R J Wanders; P Aubourg; C Vianey-Liaud; L Ijlst; M Fabre; N Cartier; P F Bougneres
Journal:  Pediatr Res       Date:  1990-12       Impact factor: 3.756

9.  General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover.

Authors:  Ute Spiekerkoetter; Zaza Khuchua; Zou Yue; Michael J Bennett; Arnold W Strauss
Journal:  Pediatr Res       Date:  2003-11-19       Impact factor: 3.756

10.  Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.

Authors:  Ute Spiekerkoetter; Bin Sun; Zaza Khuchua; Michael J Bennett; Arnold W Strauss
Journal:  Hum Mutat       Date:  2003-06       Impact factor: 4.878
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  4 in total

Review 1.  Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.

Authors:  Autumn L Fletcher; Mark E Pennesi; Cary O Harding; Richard G Weleber; Melanie B Gillingham
Journal:  Mol Genet Metab       Date:  2012-03-08       Impact factor: 4.797

2.  Sports in LCHAD Deficiency: Maximal Incremental and Endurance Exercise Tests in a 13-Year-Old Patient with Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (LCHADD) and Heptanoate Treatment.

Authors:  D Karall; G Mair; U Albrecht; K Niedermayr; T Karall; W Schobersberger; S Scholl-Bürgi
Journal:  JIMD Rep       Date:  2014-07-06

3.  Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD.

Authors:  Gabriela Elizondo; Dietrich Matern; Jerry Vockley; Cary O Harding; Melanie B Gillingham
Journal:  Mol Genet Metab       Date:  2020-09-06       Impact factor: 4.797

4.  Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD).

Authors:  Daniela Karall; Michaela Brunner-Krainz; Katharina Kogelnig; Vassiliki Konstantopoulou; Esther M Maier; Dorothea Möslinger; Barbara Plecko; Wolfgang Sperl; Barbara Volkmar; Sabine Scholl-Bürgi
Journal:  Orphanet J Rare Dis       Date:  2015-02-22       Impact factor: 4.123
  4 in total

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