Defects of Lysine Degradation

  • H. Przyrembel


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.


Quinolinic Acid Glutaric Aciduria Type Pipecolic Acid Xanthurenic Acid Amniotic Fluid Cell 
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© Springer-Verlag Berlin Heidelberg 1990

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  • H. Przyrembel

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