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Hyperdibasicaminoaciduria in a Turkish infant without evident protein intolerance (1979)

Endres, W. ; Zoulek, G. ; Schaub, J.

Springer

European journal of pediatrics 131 (1979), S. 33-41

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ISSN: 1432-1076

Keywords: Hyperdibasicaminoaciduria ; Lysinuric protein intolerance ; Loading tests ; Lysine ; Alanine ; Arginine

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: Abstract The first patient of Turkish descent with hyperdibasicaminoaciduria is described. Recurrent diarrhea was observed only during the first three months of life. The infant exhibited low plasma levels of ornithine and arginine. Intestinal absorption of lysine was decreased. Hyperammonemia was noticed only after an i.v. alanine load. It was prevented by addition of arginine.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF00442783

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