SUFFERING from lysine intolerance, the girl was first observed at the age of 3 months. She showed vomiting; episodes of coma, starting shortly after birth; seizures; and a variable muscular tonicity.1 During these comatose states the concentration of blood ammonia would rise up to 500μg/100 ml and 560μg/100 ml. The rise of ammonia as well as that of urea nitrogen was directly proportional to the protein ingested. On a low protein intake of 1.5 gm/kg/day the child remained well. The concentration of plasma amino acids was then within the normal range. When the protein intake was increased to 3 gm/kg/day or transitory to 6 gm/kg/day, a rise in blood ammonia was observed (Fig 1). The child became restless, started to vomit, developed a considerable rigidity of the muscles, became apathetic, and comatose. During these periods of high protein intake the concentration of lysine in the plasma rose from 2.7
COLOMBO JP, VASSELLA F, HUMBEL R, BUERGI W. Lysine Intolerance With Periodic Ammonia Intoxication. Am J Dis Child. 1967;113(1):138–141. doi:10.1001/archpedi.1967.02090160188030
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