Biomedical subjects
Publications and source records attributed to P Parvy.
One patient with abnormal histidinuria and a normal plasma histidine concentration is presented. This patient had myoclonic seizures like another patient previously reported with histidinuria. The effect of a peroral histidine loading test was studied. The relationship between renal histidinuria and neurological abnormalities is discussed.
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Lysinuric protein intolerance is an autosomal recessive disease, due to a defect in intestinal, renal and hepatic dibasic amino acid transport. Two new cases in the same family are reported. The disease appears progressively during the first months of life with failure to thrive, anorexia, vomiting, diarrhea, hepatosplenomegaly, muscular weakness, osteoporosis, anemia, leukothrombocytopenia, hyperammonemia and orotic aciduria after a high-protein intake. Hyperdibasicamino-aciduria was associated with subnormal plasma concentrations of the same aminoacids. Oral l-arginine, l-ornithine, l-lysine, and lysyl-glycine loads confirmed the diagnosis. The supplementation of the diet with l-citrulline resulted in normal levels of blood ammonia. However, hepatosplenomegaly, muscular weakness, osteoporosis remained unchanged and growth was not improved. These may be due to lysine deficiency.
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The urinary excretion of free amino acids has been studied on 339 normal subjects, using ion exchange chromatography. Age related reference values were obtained. A simple method for their evaluation is discussed, and the application of the method to the detection of increased glycinuria, resulting from n-dipropyl acetate therapy, is described.
A fast method for the determination of tissue free cystine is shown. Its usefulness for free cystine assays in leucocytes and muscle biopsies is discussed. The use of muscle biopsy as a means of diagnosis is proposed.
N-dipropyl-acetate (Depakine) induces a hyperglycinuria and simultaneously an increase of urinary excretion of alanine and a decrease of serine, glutamate and/or glutamine, histidine and/or ornithine. The mechanism of this side effect of n-dipropyl-acetate is discussed.
Authors propose a method permitting rapide quantitative analysis of blood amino-acids from a blood sample on paper. The amino-acid analyser was equiped with two columns of different lenght and diameter, one (0.5 x 30 cm) permitting rapid detection (complete chromatography in 110 minutes), the other (0.63 x 35 cm) permitting a quantitative study of amino-acidopathies (complete chromatography in 240 minutes). The apparatus and the program of elution proposed have the advantage of being adaptable without any other modification than the time of passage of the reagents to very rapid analysis of amino-acid groups and classical analysis of samples of serum and urine.
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