Tyrosinemia type III: diagnosis and ten-year follow-up.
Tyrosinemia type III, caused by deficiency of 4-hydroxyphenylpyruvate dioxygenase, is a rare disorder of tyrosine catabolism. Primary 4-hydroxyphenylpyruvate dioxygenase deficiency has been described in only three patients. The biochemical phenotype shows hypertyrosinemia and elevated urinary excretion of 4-hydroxyphenyl derivatives. We report the clinical and biochemical findings and the results of long-term follow-up in a new patient with this disorder presenting with severe mental retardation and neurological abnormalities. The clinical phenotype is compared with those reported in the three previously described patients.
Cerone
R
R
University Department of Paediatrics, G. Gaslini Institute, Genova, Italy.
Holme
E
E
Schiaffino
M C
MC
Caruso
U
U
Maritano
L
L
Romano
C
C
D015111:4-Hydroxyphenylpyruvate Dioxygenase / Q000172:deficiency*; D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000178:diet therapy / Q000201:enzymology; D000596:Amino Acids / Q000008:administration & dosage; D001707:Biopsy, Needle; D002648:Child; D002675:Child, Preschool; D004338:Drug Combinations; D005500:Follow-Up Studies; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000178:diet therapy / Q000201:enzymology; D008099:Liver / Q000201:enzymology / Q000473:pathology; D008297:Male; D008903:Minerals / Q000008:administration & dosage; D009460:Neurologic Examination; D014443:Tyrosine / Q000008:administration & dosage / Q000097:blood*; D014815:Vitamins / Q000008:administration & dosage
D000596:Amino Acids; D004338:Drug Combinations; C042117:Milupa; D008903:Minerals; D014815:Vitamins; D014443:Tyrosine; D015111:4-Hydroxyphenylpyruvate Dioxygenase