title: Maternal and fetal tyrosinemia type I.
abstract: A 22 year-old woman with tyrosinemia type I (HT1) married her first cousin who is heterozygous for the same FAH mutation for which the patient is homozygous. During her pregnancy she was treated with diet (prescribed tyrosine intake 300 mg/day), and nitisinone (60 mg/day). Median plasma tyrosine levels were 560 μmol/L (range: 375-838, n = 21) and nitisinone 51 μmol/L (range: 41-57, n = 3) during pregnancy. She gave birth to a clinically healthy girl affected with tyrosinemia type 1. Birth was normal (birth weight 2615 g) and the baby had normal liver function, normal plasma alpha-fetoprotein concentrations, low urinary excretion of phenolic acids and no detectable succinylacetone. At birth, the baby had hypertyrosinemia (860 μmol/L in blood cord) and nitisinone levels of 14 μmol/L. Following molecular confirmation of the diagnosis of HT1 specific treatment began on day 15 by which time she had detectable urinary succinylacetone.
authors.affiliation: Reference Center for Inherited Metabolic Diseases, Hôpital Robert Debré, APHP, 48 Boulevard Sérurier, 75019 Paris, France.
authors.forename: N
authors.initials: N
authors.lastname: Garcia Segarra
authors.forename: S
authors.initials: S
authors.lastname: Roche
authors.forename: A
authors.initials: A
authors.lastname: Imbard
authors.forename: J F
authors.initials: JF
authors.lastname: Benoist
authors.forename: M O
authors.initials: MO
authors.lastname: Grenèche
authors.forename: A
authors.initials: A
authors.lastname: Davit-Spraul
authors.forename: H
authors.initials: H
authors.lastname: Ogier de Baulny
mesh_terms: D015415:Biomarkers / Q000097:blood / Q000652:urine; D002657:Child Development; D003241:Consanguinity; D003512:Cyclohexanones / Q000627:therapeutic use; D004252:DNA Mutational Analysis; D018753:Diet, Protein-Restricted; D005260:Female; D020022:Genetic Predisposition to Disease; D006537:Heptanoates / Q000097:blood / Q000652:urine; D040941:Heredity; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006867:Hydrolases / Q000235:genetics* / Q000378:metabolism; D007223:Infant; D007231:Infant, Newborn; D050498:Live Birth; D009154:Mutation; D009579:Nitrobenzoates / Q000627:therapeutic use; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D014443:Tyrosine / Q000097:blood; D020176:Tyrosinemias / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics* / Q000628:therapy; D055815:Young Adult
chemical_list: D015415:Biomarkers; D003512:Cyclohexanones; D006537:Heptanoates; D009579:Nitrobenzoates; D014443:Tyrosine; C020804:succinylacetone; D006867:Hydrolases; C020156:fumarylacetoacetase; C077073:nitisinone