title: Hawkinsinuria in two unrelated Greek newborns: identification of a novel variant, biochemical findings and treatment.
abstract: BACKGROUND
  Hawkinsinuria is a rare inborn error of tyrosine metabolism.
  
  
  OBJECTIVE
  To study novel hawkinsinuria cases by monitoring their biochemical profile and conducting a mutation analysis.
  
  
  METHODS
  Among 92,519 newborns that underwent expanded newborn screening, two unrelated cases with high tyrosine blood levels were further investigated by chromatographic techniques and via genetic testing for 4-hydroxyphenylpyruvate dioxygenase (HPD) gene.
  
  
  RESULTS
  Elevated levels were monitored for blood/plasma tyrosine and for the specific diagnostic markers in urine. The two newborns were put on a special low tyrosine diet. Till completion of the 1st year of their life, liver function tests and brain MRI were normal. The mutation A33T was identified in both cases, while one neonate carried an additional novel mutation of HPD gene (V212M).
  
  
  CONCLUSIONS
  Two mutations of HPD gene, A33T, which are associated with hawkinsinuria and a novel one (V212M) were detected for the 1st time in Greek newborns.
authors.forename: Georgia
authors.initials: G
authors.lastname: Thodi
authors.forename: Kleopatra H
authors.initials: KH
authors.lastname: Schulpis
authors.forename: Yannis
authors.initials: Y
authors.lastname: Dotsikas
authors.forename: Christiane
authors.initials: C
authors.lastname: Pavlides
authors.forename: Elina
authors.initials: E
authors.lastname: Molou
authors.forename: Maria
authors.initials: M
authors.lastname: Chatzidaki
authors.forename: Olga
authors.initials: O
authors.lastname: Triantafylli
authors.forename: Yannis L
authors.initials: YL
authors.lastname: Loukas
mesh_terms: D015111:4-Hydroxyphenylpyruvate Dioxygenase / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008111:Liver Function Tests; D008297:Male; D006899:Mixed Function Oxygenases / Q000172:deficiency* / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D015997:Neonatal Screening; D020176:Tyrosinemias / Q000175:diagnosis / Q000235:genetics*
chemical_list: D006899:Mixed Function Oxygenases; D015111:4-Hydroxyphenylpyruvate Dioxygenase