[Plasma, intraerythrocytic and spinal fluid amino acid levels in a case of ulcero-mutilating acropathy].

Abstract

In a patient affected by Thevenard's disease (degenerative disease of the spinal ganglia and posterior roots) we measured levels of intraerythrocytic, plasmatic and cerebrospinal fluid aminoacids. In the plasma we found an increased concentration of taurine and glycine, expression of hypercatabolism, which was confirmed by the presence of a decreased level of the free intraerythrocytic aminoacids. In the cerebrospinal fluid we found increased concentrations of methionine, valine and lysine which indicates the presence of an enzymatic inhibition that involves the systemic transport of aminoacids at the barrier level. The increased levels of glutamic acid and arginine suggests an alteration of the synthesis of alpha-guanino butyric acid. We have also found an increase in the levels of valine, methionine, glycine, tyrosine which suggests the presence of an enzymatic alteration in the collateral reactions that biochemically feed into the Krebs cycle. The authors therefore conclude that the basis of this disease may be found in a metabolic defect biochemical synthesis.