[Lysinuric protein intolerance].
We report the first case of lysinuric protein intolerance observed in Germany. A girl of Turkish ancestry suffered from severe dehydration at the age of 6 months after changing from breast milk to cow milk. Because of a microcytic hypochromic anaemia and erythrophagocytosis in the bone marrow a hematologic disease (Farquar's disease) was suspected. The definite diagnosis of lysinuric protein intolerance was eventually clarified by the following laboratory and clinical data: increased urinary excretion and low plasma concentration of lysine, arginine and ornithine, apathy, vomiting, diarrhea and hyperammonemia after an oral protein load, high serum LDH-activity, ferritinemia, and increased urinary excretion of orotic acid. Under therapy with citrullin and a low-protein diet the metabolic situation remained stable, even during infections. The bone marrow findings have been reported only in one further case of lysinuric protein intolerance.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000188:drug therapy; D001120:Arginine / Q000097:blood / Q000652:urine; D002956:Citrulline / Q000627:therapeutic use; D003241:Consanguinity; D004044:Dietary Proteins / Q000378:metabolism; D005260:Female; D005293:Ferritins / Q000032:analysis; D006801:Humans; D007223:Infant; D007770:L-Lactate Dehydrogenase / Q000032:analysis; D008239:Lysine / Q000097:blood / Q000378:metabolism / Q000652:urine*; D009952:Ornithine / Q000097:blood / Q000652:urine; D014421:Turkey / Q000208:ethnology
D004044:Dietary Proteins; D002956:Citrulline; D005293:Ferritins; D001120:Arginine; D009952:Ornithine; D007770:L-Lactate Dehydrogenase; D008239:Lysine
Lysinurische Proteinintoleranz.