title: Hereditary tyrosinemia type 1 from a single center in Egypt: clinical study of 22 cases.
abstract: BACKGROUND
  Hereditary tyrosinemia type 1 (HT1) is an increasingly recognized inborn error of metabolism among Egyptian children. This study was undertaken to define the presenting clinical, biochemical and imaging features and outcome of 2-(2-motrp-4-trifluoromethylbenzoyl)-1, 3-cyclohexanedione (NTBC) therapy and liver transplantation in a cohort of Egyptian children diagnosed with HT1.
  
  
  METHODS
  The study was carried out at the Pediatric Hepatology Unit at Cairo University Children's Hospital. HT1 was diagnosed by quantification of succinylacetone (SA) in dry blood spots.
  
  
  RESULTS
  Twenty-two patients were diagnosed with HT1 in a period of 3 years from August 2006 to July 2009. Infants with focal hepatic lesions and hepatomegaly (n=13) were younger at diagnosis than those with rickets (n=5) (median age: 3.25 vs. 10 months; P=0.05). Alpha fetoprotein was highly elevated in all children. Seven children died within a few weeks of diagnosis before therapy was initiated. Ten children were treated with NTBC. The response to NTBC treatment was apparent by a steep drop in serum alpha fetoprotein (AFP) and undetectable SA in urine within 2 months. Three children underwent living donor liver transplantation after treatment with NTBC for 10, 18 and 22 months respectively, despite adequate response to therapy because of financial issues. The explanted livers were all cirrhotic with no dysplasia or malignant transformation.
  
  
  CONCLUSIONS
  Focal hepatic lesions are the commonest presentation of HT1 patients and they present at an earlier age than rickets. NTBC is effective but very expensive. Liver transplantation is still considered in HT1 patients.
authors.affiliation: Department of Pediatrics, Cairo University, Cairo, Egypt. hanaakaraksy@yahoo.com
authors.forename: Hanaa
authors.initials: H
authors.lastname: El-Karaksy
authors.forename: Mona
authors.initials: M
authors.lastname: Fahmy
authors.forename: Mona
authors.initials: M
authors.lastname: El-Raziky
authors.forename: Nehal
authors.initials: N
authors.lastname: El-Koofy
authors.forename: Rokaya
authors.initials: R
authors.lastname: El-Sayed
authors.forename: Mohamed S
authors.initials: MS
authors.lastname: Rashed
authors.forename: Hasan
authors.initials: H
authors.lastname: El-Kiki
authors.forename: Ahmad
authors.initials: A
authors.lastname: El-Hennawy
authors.forename: Nabil
authors.initials: N
authors.lastname: Mohsen
mesh_terms: D002675:Child, Preschool; D003512:Cyclohexanones / Q000627:therapeutic use; D004534:Egypt; D004791:Enzyme Inhibitors / Q000627:therapeutic use; D005260:Female; D006801:Humans; D007223:Infant; D016031:Liver Transplantation; D008297:Male; D009579:Nitrobenzoates / Q000627:therapeutic use; D020176:Tyrosinemias / Q000175:diagnosis / Q000628:therapy
chemical_list: D003512:Cyclohexanones; D004791:Enzyme Inhibitors; D009579:Nitrobenzoates; C077073:nitisinone