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Maternal and fetal tyrosinemia type I.
J Inherit Metab Dis 2010; 33 Suppl 3:S507-10JI

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+Show Affiliations

Reference Center for Inherited Metabolic Diseases, Hôpital Robert Debré, APHP, 48 Boulevard Sérurier, 75019 Paris, France.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

23250512

Citation

Garcia Segarra, N, et al. "Maternal and Fetal Tyrosinemia Type I." Journal of Inherited Metabolic Disease, vol. 33 Suppl 3, 2010, pp. S507-10.
Garcia Segarra N, Roche S, Imbard A, et al. Maternal and fetal tyrosinemia type I. J Inherit Metab Dis. 2010;33 Suppl 3:S507-10.
Garcia Segarra, N., Roche, S., Imbard, A., Benoist, J. F., Grenèche, M. O., Davit-Spraul, A., & Ogier de Baulny, H. (2010). Maternal and fetal tyrosinemia type I. Journal of Inherited Metabolic Disease, 33 Suppl 3, pp. S507-10. doi:10.1007/s10545-012-9569-8.
Garcia Segarra N, et al. Maternal and Fetal Tyrosinemia Type I. J Inherit Metab Dis. 2010;33 Suppl 3:S507-10. PubMed PMID: 23250512.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Maternal and fetal tyrosinemia type I. AU - Garcia Segarra,N, AU - Roche,S, AU - Imbard,A, AU - Benoist,J F, AU - Grenèche,M O, AU - Davit-Spraul,A, AU - Ogier de Baulny,H, Y1 - 2012/12/19/ PY - 2012/11/04/received PY - 2012/11/22/accepted PY - 2012/11/21/revised PY - 2012/12/20/entrez PY - 2012/12/20/pubmed PY - 2014/4/9/medline SP - S507 EP - 10 JF - Journal of inherited metabolic disease JO - J. Inherit. Metab. Dis. VL - 33 Suppl 3 N2 - 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. SN - 1573-2665 UR - https://www.unboundmedicine.com/medline/citation/23250512/Maternal_and_fetal_tyrosinemia_type_I_ L2 - https://doi.org/10.1007/s10545-012-9569-8 DB - PRIME DP - Unbound Medicine ER -