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Defects of Lysine Degradation

  • H. Przyrembel

Summary

Glutaric aciduria results from an autosomal recessive inherited defect of glutaryl-CoA dehydrogenase. Measurable amounts of glutarate in plasma and cerebrospinal fluid and increased urinary excretion of glutarate, 3-hydroxyglutarate, and, inconsistently, glutaconate are found. The main clinical characteristic is a progressive neurologic disorder comprising dysarthria, dystonia, and choreoathetosis. Most patients are mentally retarded. Therapeutic intervention including protein restriction, administration of l-carnitine, riboflavin, and GABA analogues rarely stop progression of symptoms and reverse neurologic abnormalities.

Keywords

Quinolinic Acid Glutaric Aciduria Type Pipecolic Acid Xanthurenic Acid Amniotic Fluid Cell 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1990

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  • H. Przyrembel

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