Glutaric aciduria type II: report on a previously undescribed metabolic disorder.

@article{Przyrembel1976GlutaricAT,
  title={Glutaric aciduria type II: report on a previously undescribed metabolic disorder.},
  author={Hildegard Przyrembel and Udo Wendel and Katja Becker and Hans J. Bremer and Lieneke Bruinvis and D. Ketting and Sybe K. Wadman},
  journal={Clinica chimica acta; international journal of clinical chemistry},
  year={1976},
  volume={66 2},
  pages={227-39}
}
A report is given on a hitherto undescribed metabolic disorder, characterized clinically by fatal neonatal acidosis, hypoglycemia and a strong 'sweaty-feet' odour. Biochemical features were a massive urinary excretion of glutaric and lactic acids. Isobutyric, isovaleric and alpha-methylbutyric acids were also greatly increased, followed by adipic, ethylmalonic, alpha-hydroxybutyric, n-butyric, beta-hydroxybutyric, sebacic, suberic, propionic, alpha-hydroxyisovaleric and hexanoic acids. The… CONTINUE READING

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