Familial protein intolerance with deficient transport of basic amino acids. Report on an adult patient with chronic hyperammonemia.
D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics / Q000628:therapy; D000596:Amino Acids / Q000627:therapeutic use; D000641:Ammonia / Q000097:blood*; D001846:Bone Development; D002908:Chronic Disease; D004035:Diet Therapy; D004044:Dietary Proteins; D004569:Electroencephalography; D005234:Fatty Liver / Q000209:etiology; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D008297:Male; D011506:Proteins / Q000009:adverse effects; D014474:Unconsciousness / Q000209:etiology
D000596:Amino Acids; D004044:Dietary Proteins; D011506:Proteins; D000641:Ammonia