A new patient with hyperornithinaemia, hyperammonaemia and homocitrullinuria treated early with low protein diet.
The characteristic biochemical disturbances of the amino acid and pyrimidine metabolism are described and illustrated by the first case of the HHH syndrome reported in Norway. The disorder was treated with a low protein diet at an early age and the patient developed normally on this diet.
D000592:Amino Acid Metabolism, Inborn Errors / Q000178:diet therapy*; D000596:Amino Acids / Q000097:blood / Q000652:urine; D000641:Ammonia / Q000097:blood*; D002956:Citrulline / Q000031:analogs & derivatives* / Q000652:urine; D004044:Dietary Proteins / Q000008:administration & dosage*; D005973:Glutamine / Q000097:blood / Q000652:urine; D006801:Humans; D007223:Infant; D008297:Male; D009952:Ornithine / Q000097:blood* / Q000652:urine; D011743:Pyrimidines / Q000378:metabolism
D000596:Amino Acids; D004044:Dietary Proteins; D011743:Pyrimidines; D005973:Glutamine; C001352:homocitrulline; D002956:Citrulline; D000641:Ammonia; D009952:Ornithine; C030986:pyrimidine