Maternal and fetal tyrosinemia type I
Autor: | A. Davit-Spraul, Marie-Odile Greneche, S. Roche, J.-F. Benoist, A. Imbard, H. Ogier de Baulny, N. Garcia Segarra |
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Rok vydání: | 2010 |
Předmět: |
Heterozygote
medicine.medical_specialty Heredity Cord Nitisinone Hydrolases Urinary system Birth weight DNA Mutational Analysis Tyrosinemia Type I Tyrosinemia Consanguinity Young Adult Child Development Pregnancy Internal medicine Diet Protein-Restricted Genetics medicine Humans Genetic Predisposition to Disease Genetics (clinical) Fetus Cyclohexanones Tyrosinemias business.industry Homozygote Infant Newborn Infant medicine.disease Heptanoates Pedigree Phenotype Endocrinology Nitrobenzoates Mutation Tyrosine Female business Live Birth Biomarkers medicine.drug |
Zdroj: | Journal of Inherited Metabolic Disease. 33:507-510 |
ISSN: | 1573-2665 |
Popis: | 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. |
Databáze: | OpenAIRE |
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