Dietary management of oculocutaneous tyrosinemia in an 11-year-old child.
An 11-year-old girl with keratitis and plantar keratosis had tyrosinemia. The concentration of tyrosine in the plasma was 16.5 mg/dL. Dietary intake of phenylalanine and tyrosine was systematically varied, and the plasma concentrations of tyrosine and nitrogen balance were studied. It was necessary to achieve a total intake of phenylalanine and tyrosine less than 100 mg/kg/day to obtain plasma concentrations of tyrosine of less than 10 mg/dL. After dietary therapy was started, the keratitis resolved promptly, and the patient remained asymptomatic during a period of 16 months in which the mean plasma concentration of tyrosine was 11.1 mg/dL. The dietary management of a child at this age presents a different problem from that of a young infant. It can be successfully pursued at home, as well as in the carefully regulated environment of a clinical research center.
D000293:Adolescent; D000328:Adult; D000553:Ambulatory Care; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology; D007634:Keratitis / Q000178:diet therapy*; D007645:Keratoderma, Palmoplantar / Q000178:diet therapy*; D008297:Male; D010649:Phenylalanine / Q000008:administration & dosage; D012621:Seasons; D013577:Syndrome; D014443:Tyrosine / Q000008:administration & dosage / Q000097:blood* / Q000378:metabolism
D014443:Tyrosine; D010649:Phenylalanine