Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: Another possible case of glutaric aciduria type II

@article{Gregersen1980BiochemicalSI,
  title={Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: Another possible case of glutaric aciduria type II},
  author={N. Gregersen and Steen K\olvraa and Karsten Rasmussen and Ernst Christensen and Niels Jacob Brandt and Finn Ebbesen and F. H. Hansen},
  journal={Journal of Inherited Metabolic Disease},
  year={1980},
  volume={3},
  pages={67-72}
}
The clinical and biochemical abnormalities in a neonate, who died in coma accompanied by severe hypoglycaemia at the age of 3 days, are described. The study of the urinary metabolic profiles of organic acids and amino acids revealed that the excretion rates of glutaric acid, isovaleric acid, isovalerylglycine, 3-hydroxyisovaleric acid and isobutyric acid were very high. Increased excretion rates were also found for 2-methylbutyric acid, adipic acid, caproylglycine, 5-hydroxycaproic acid… CONTINUE READING
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