Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features.

@article{Koehler1999AdenylosuccinaseDP,
  title={Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features.},
  author={Michael Koehler and Birgit E Assmann and Christa Br{\"a}utigam and Wolfgang Storm and Sandrine Marie and Marie Françoise Vincent and Georges Van den Berghe and H. Anne Simmonds and Georg Friedrich Hoffmann},
  journal={European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society},
  year={1999},
  volume={3 1},
  pages={3-6}
}
Adenylosuccinase deficiency is an autosomal recessive inherited defect of purine synthesis. In enzyme deficient patients, two normally undetectable compounds, succinylaminoimidazole carboxamide riboside and succinyladenosine, accumulate in urine, cerebrospinal fluid and, to a minor extent, in plasma. Analysing 150 highly selected urine specimens from patients with unidentified neurogenerative disorders we discovered the first two German cases of adenylosuccinase deficiency. The deficiency… CONTINUE READING

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