Mutation Analysis for Prenatal Diagnosis of Hereditary Tyrosinaemia Type 1

Overview

Journal Prenat Diagn

Publisher Wiley

Specialty Gynecology & Obstetrics

Date 1997 Nov 14

PMID 9358577

Citations 5

Authors

A Mustonen

H K Ploos van Amstel

R Berger

M K Salo

L Viinikka

K O Simola

Affiliations

Soon will be listed here.

Abstract

Hereditary tyrosinaemia type 1 is a rare but serious metabolic disorder with an autosomal recessive mode of inheritance. We describe the prenatal diagnosis of an affected fetus performed by DNA-mutation analysis and a subsequent pregnancy with a healthy child in the same family.

Citing Articles

A Lithuanian Case of Tyrosinemia Type 1 with a Literature Review: A Rare Cause of Acute Liver Failure in Childhood.

Rokaite R, cibirkaite A, Zeleckyte V, Lazdinyte G, Dzenkaitis M Medicina (Kaunas). 2024; 60(1).

PMID: 38256395 PMC: 10820469. DOI: 10.3390/medicina60010135.

The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening.

Priestley J, Alharbi H, Callahan K, Guzman H, Payan-Walters I, Smith L Int J Neonatal Screen. 2020; 6(2).

PMID: 32832707 PMC: 7422996. DOI: 10.3390/ijns6020039.

Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.

Angileri F, Bergeron A, Morrow G, Lettre F, Gray G, Hutchin T JIMD Rep. 2015; 19:43-58.

PMID: 25681080 PMC: 4501228. DOI: 10.1007/8904_2014_363.

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.

Mayorandan S, Meyer U, Gokcay G, Garcia Segarra N, de Baulny H, van Spronsen F Orphanet J Rare Dis. 2014; 9:107.

PMID: 25081276 PMC: 4347563. DOI: 10.1186/s13023-014-0107-7.

Current strategies for the treatment of hereditary tyrosinemia type I.

Ashorn M, Pitkanen S, Salo M, Heikinheimo M Paediatr Drugs. 2006; 8(1):47-54.

PMID: 16494511 DOI: 10.2165/00148581-200608010-00004.