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Amino Aciduria in Disease

Dent s classification is the basis of most classifications of abnormal types of amino aciduria. He divides the pathological conditions into three categories (D9) (A) Overflow amino aciduriain which the blood level of the amino acid concerned is definitely raised above normal [example Section 4.2.1.L (a)] (B) Renal amino aciduria, in which case the blood level is either normal or below normal, and yet the urinary excretion is above normal [tubular reabsorption deficiency example Section 4.2.I.I. (e)] (C) No threshold amino aciduria, in which Dent attributes the condition to an extrarenal disturbance of the metabolism of an amino acid with a high blood clearance, and in which, on account of this latter circumstance, the corresponding blood level may stay normal or is hardly increased. [Pg.229]

Dent s proposal presupposes that our knowledge of amino acid blood levels and of clearances is sufficiently accurate to make it possible to classify easily all observed disturbances into one of those three categories. Once again, that is far from being the case in many instances our present volume of information seems to be still far from what it should be, as far as quantitative data are concerned, to render this possible. We have found it preferable therefore, and for the time being, to adopt the following classification. [Pg.229]

Provisional Classification of Pathological Disorders Adopted in the Present Chapter [Pg.230]

Wallis and Engle (W2) have reported cases among adults ( Milkman syndrome ), the condition being eventually attributed to the toxicity of heavy metals or of Bence Jones proteins (E3). According to Dent and Harris (Dll) the condition is transmitted as a recessive gene. [Pg.232]

Dubois et al. (D24) have made an intensive study of a case of de Toni-Debre-Fanconi syndrome in a 2-year-old child in which there were no cystine deposits they also found an abundant excretion of eitrulline, but no correlation between glycosuria and amino aciduria in the course of a glucose tolerance test (Fig. 4). [Pg.232]


See other pages where Amino Aciduria in Disease is mentioned: [Pg.201]    [Pg.202]    [Pg.229]   


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