title: [Late onset type I tyrosinemia].
abstract: The authors present a case of tyrosinemia type 1, 3 years old girl at the time of diagnosis. The presenting symptoms were 3 times colic, obstipation, acute encephalopathy, hypertension, hyponatremia, according to the porphyric crisis. Her kidney function tests gave normal results during illness, only once an increased calcium turnover was observed. She has no singe of rachitis. Cirrhosis of the liver was proved by biopsy because of progressively rising gammaGT and alfa-fetoprotein levels. A new ensime-blocker (NTBC) treatment was started in an international collaboration. The authors compare the history of this case to that of others published in the literature. They summarize the pathomechanism of the disease.
authors.affiliation: Semmelweis Orvostudományi Egyetem, Budapest, II. Gyermekklinika.
authors.forename: V
authors.initials: V
authors.lastname: Klujber
authors.forename: A
authors.initials: A
authors.lastname: Sallai
authors.forename: R
authors.initials: R
authors.lastname: Kálmánchey
authors.forename: L
authors.initials: L
authors.lastname: Szönyi
authors.forename: E
authors.initials: E
authors.lastname: Hosszú
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood* / Q000175:diagnosis / Q000188:drug therapy; D001706:Biopsy; D002675:Child, Preschool; D003512:Cyclohexanones / Q000627:therapeutic use*; D004791:Enzyme Inhibitors / Q000627:therapeutic use; D005260:Female; D006801:Humans; D008103:Liver Cirrhosis / Q000175:diagnosis / Q000209:etiology / Q000473:pathology; D009579:Nitrobenzoates / Q000627:therapeutic use*; D010166:Palliative Care; D011164:Porphyrias / Q000209:etiology; D014443:Tyrosine / Q000097:blood*; D000509:alpha-Fetoproteins / Q000032:analysis
chemical_list: D003512:Cyclohexanones; D004791:Enzyme Inhibitors; D009579:Nitrobenzoates; D000509:alpha-Fetoproteins; D014443:Tyrosine; C077073:nitisinone