Efficiency of metabolic screening in childhood cardiomyopathies.

@article{Bonnet1998EfficiencyOM,
  title={Efficiency of metabolic screening in childhood cardiomyopathies.},
  author={Damien Bonnet and Pascale de Lonlay and Isabelle Gautier and Pierre Rustin and Agn{\`e}s R{\"o}tig and Jean Kachaner and Philippe Acar and J{\'e}rome Lebidois and Arnold Munnich and Daniel Sidi},
  journal={European heart journal},
  year={1998},
  volume={19 5},
  pages={
          790-3
        }
}
AIM To estimate the efficiency of metabolic screening in children's cardiomyopathy. METHODS AND RESULTS Blood glucose, lactate, pyruvate and ketone body, and carnitine levels were measured in 58 children referred with a cardiomyopathy of unknown origin. Organic acids, amino acids, oxidation of [1-14C] fatty acids to CO2 and dehydrogenation of [9,10(-3)H] fatty acids by lymphocytes were measured. Mitochondrial respiratory chain complex activity was measured in skeletal muscle and in… 

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References

SHOWING 1-10 OF 22 REFERENCES
Deficiency of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase: A Cause of Lethal Myopathy and Cardiomyopathy in Early Childhood
TLDR
A child presented in early childhood with episodes of coma and hypoglycemia and a rapidly evolutive myopathy and cardiomyopathy leading to death at 9 mo of age with a disorder of fatty acid metabolism that affects the liver, skeletal muscles, and myocardium.
Impaired Skin Fibroblast Carnitine Uptake in Primary Systemic Carnitine Deficiency Manifested by Childhood Carnitine-Responsive Cardiomyopathy
TLDR
It is concluded that carnitine uptake studies in cultured skin fibroblasts are important for diagnosis, screening of siblings and heterozygote parents, understanding pathogenesis, and investigating the molecular basis of this disease.
Investigation of respiratory chain activity in human heart.
TLDR
The value of investigations on endomyocardial biopsies is illustrated in the case of two patients affected with mitochondrial cardiomyopathy and is discussed in regard to the tissue-specific nature of mitochondrial diseases.
Mitochondrial DNA deletions in dilated cardiomyopathy: a clinical study employing endomyocardial sampling.
L-Carnitine and its role in medicine: from function to therapy
TLDR
The role of Carnitine in Heart Failure, and its role in Metabolism of Paced Cardiac an Dskeletal Muscle: Prevention of Acidosis and Improvement of Vascular Flow, is discussed.
Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA.
TLDR
Examining mRNA and DNA from cell lines of eight additional infantile and three adult-onset patients and combining these data with those for previously reported presence or absence of GAA-mutant protein cross-reacting to antibody provide evidence for a minimum of six different mutations in these 14GAA-deficient cell lines.
Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients.
TLDR
Quantitative cDNA expression of normal human VLCAD was performed in the patients' fibroblasts, using vaccinia viral system, which demonstrated that the deficiency of the normal V LCAD protein causes impaired long-chain fatty acid beta-oxidation activity in the patient's fibro Blasts.
Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: a treatable cardiomyopathy.
TLDR
A large number of patients with atypical myocardial contractility with hypertrophy and dilatation of the heart are diagnosed with familial familial fibroelastosis, a cardiomyopathy of unknown origin.
...
1
2
3
...