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Amino acid metabolism hereditary disorders

TABLE 5 Hereditary Disorders of Amino Acid Metabolism... [Pg.182]

J8. Jonxis, J. H. P., Hereditary disorders in the amino-acid metabolism which cause disorders in the central nervous system. In Brain Damage by Inborn Errora of Metabolism, Symp. Interdisciplinary Soc. Biol. Psychiat. pp. 9-22. Bohn, Haarlem, 1968. [Pg.207]

Scriver, C. R., Schafer, I. A., and Efron, M. L., New renal tubular amino-acid transport system and a new hereditary disorder of amino acid metabolism. Nature (London) 192, 672-673 (1961). [Pg.214]

Wll. Westall, R. G., The free amino acids of body fluids and some hereditary disorders of amino acid metabolism. In Amino Acid Pools (J. T. Holden, ed.), pp. 195-219. Elsevier, Amsterdam, 1962. [Pg.217]

The Hartnup disease described in 1956 (B2) under the title hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal aminoaciduria, and other bizarre biochemical features evidently belongs to the diseases related to inborn errors of metabolism due to inherited differences. As was pointed out by Harris (H3), very often the detection of urinary amino acid metabolites has represented the starting point of the investigation of different genetic biochemical disorders. A recent study (A8) showed that the excess production of indole by colon bacteria in 15 cases of Hartnup disease was due entirely to an increased amount of tryptophan contained in the large bowel, and not to an abnormality of the bacteria themselves. [Pg.120]

Unlike other disease entities, excejit for canine cystinuria, no other nonhuman inherited amino acid disorders have been uncovered. In place of animal studies, increasing emphasis is being placed on the use of cultured explants of tissues removed from patients with hereditary metabolic disease. Cultured explants of skin, leukocytes, and erythrocytes have been used to study the metabolism of such disorders as citrullinemia, branch-chain ketoaciduria, cystinosis, homocystinuria, and isovalericacidemia (S18). [Pg.198]


See other pages where Amino acid metabolism hereditary disorders is mentioned: [Pg.145]    [Pg.181]    [Pg.453]    [Pg.44]    [Pg.5390]    [Pg.58]    [Pg.570]    [Pg.644]   
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