title: Tyrosinemia Type III detected via neonatal screening: management and outcome.
abstract: Tyrosinemia Type III is caused by the deficiency of 4-hydroxyphenylpyruvate dioxygenase (4-HPPD), an enzyme involved in the catabolic pathway of tyrosine. To our knowledge, only a few patients presenting with this disease have been described in the literature, and the clinical phenotype remains variable and unclear. We report the case of a boy with tyrosinemia Type III detected using neonatal screening, who is homozygous for the splice donor mutation IVS11+1G>A in intron 11 of the HPD gene. At the age of 30 months, the boy's outcome under mild protein restriction was characterized by normal growth and psychomotor development.
authors.affiliation: Université Catholique de Louvain, Cliniques Universitaires Saint-Luc, Avenue Hippocrate 10, B-1200 Bruxelles, Belgium.
authors.forename: Evelyne
authors.initials: E
authors.lastname: Heylen
authors.forename: Gerd
authors.initials: G
authors.lastname: Scherer
authors.forename: Marie-Françoise
authors.initials: MF
authors.lastname: Vincent
authors.forename: Sandrine
authors.initials: S
authors.lastname: Marie
authors.forename: Judith
authors.initials: J
authors.lastname: Fischer
authors.forename: Marie-Cécile
authors.initials: MC
authors.lastname: Nassogne
mesh_terms: D015111:4-Hydroxyphenylpyruvate Dioxygenase / Q000172:deficiency / Q000235:genetics*; D002675:Child, Preschool; D018753:Diet, Protein-Restricted; D019468:Disease Management; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D007438:Introns; D008297:Male; D009154:Mutation; D015997:Neonatal Screening; D011597:Psychomotor Performance; D016896:Treatment Outcome; D014443:Tyrosine / Q000378:metabolism*; D020176:Tyrosinemias / Q000178:diet therapy* / Q000235:genetics / Q000378:metabolism
chemical_list: D014443:Tyrosine; D015111:4-Hydroxyphenylpyruvate Dioxygenase